---
_id: '7712'
abstract:
- lang: eng
text: 'Male pattern baldness (MPB) is a sex-limited, age-related, complex trait.
We study MPB genetics in 205,327 European males from the UK Biobank. Here we show
that MPB is strongly heritable and polygenic, with pedigree-heritability of 0.62
(SE = 0.03) estimated from close relatives, and SNP-heritability of 0.39 (SE = 0.01)
from conventionally-unrelated males. We detect 624 near-independent genome-wide
loci, contributing SNP-heritability of 0.25 (SE = 0.01), of which 26 X-chromosome
loci explain 11.6%. Autosomal genetic variance is enriched for common variants
and regions of lower linkage disequilibrium. We identify plausible genetic correlations
between MPB and multiple sex-limited markers of earlier puberty, increased bone
mineral density (rg = 0.15) and pancreatic β-cell function (rg = 0.12). Correlations
with reproductive traits imply an effect on fitness, consistent with an estimated
linear selection gradient of -0.018 per MPB standard deviation. Overall, we provide
genetic insights into MPB: a phenotype of interest in its own right, with value
as a model sex-limited, complex trait.'
article_number: '5407'
article_processing_charge: No
article_type: original
author:
- first_name: Chloe X.
full_name: Yap, Chloe X.
last_name: Yap
- first_name: Julia
full_name: Sidorenko, Julia
last_name: Sidorenko
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Kathryn E.
full_name: Kemper, Kathryn E.
last_name: Kemper
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Yap CX, Sidorenko J, Wu Y, et al. Dissection of genetic variation and evidence
for pleiotropy in male pattern baldness. Nature Communications. 2018;9.
doi:10.1038/s41467-018-07862-y
apa: Yap, C. X., Sidorenko, J., Wu, Y., Kemper, K. E., Yang, J., Wray, N. R., …
Visscher, P. M. (2018). Dissection of genetic variation and evidence for pleiotropy
in male pattern baldness. Nature Communications. Springer Nature. https://doi.org/10.1038/s41467-018-07862-y
chicago: Yap, Chloe X., Julia Sidorenko, Yang Wu, Kathryn E. Kemper, Jian Yang,
Naomi R. Wray, Matthew Richard Robinson, and Peter M. Visscher. “Dissection of
Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness.” Nature
Communications. Springer Nature, 2018. https://doi.org/10.1038/s41467-018-07862-y.
ieee: C. X. Yap et al., “Dissection of genetic variation and evidence for
pleiotropy in male pattern baldness,” Nature Communications, vol. 9. Springer
Nature, 2018.
ista: Yap CX, Sidorenko J, Wu Y, Kemper KE, Yang J, Wray NR, Robinson MR, Visscher
PM. 2018. Dissection of genetic variation and evidence for pleiotropy in male
pattern baldness. Nature Communications. 9, 5407.
mla: Yap, Chloe X., et al. “Dissection of Genetic Variation and Evidence for Pleiotropy
in Male Pattern Baldness.” Nature Communications, vol. 9, 5407, Springer
Nature, 2018, doi:10.1038/s41467-018-07862-y.
short: C.X. Yap, J. Sidorenko, Y. Wu, K.E. Kemper, J. Yang, N.R. Wray, M.R. Robinson,
P.M. Visscher, Nature Communications 9 (2018).
date_created: 2020-04-30T10:41:19Z
date_published: 2018-12-20T00:00:00Z
date_updated: 2021-01-12T08:15:02Z
day: '20'
doi: 10.1038/s41467-018-07862-y
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-018-07862-y
month: '12'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Dissection of genetic variation and evidence for pleiotropy in male pattern
baldness
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7716'
abstract:
- lang: eng
text: Genomic prediction has the potential to contribute to precision medicine.
However, to date, the utility of such predictors is limited due to low accuracy
for most traits. Here theory and simulation study are used to demonstrate that
widespread pleiotropy among phenotypes can be utilised to improve genomic risk
prediction. We show how a genetic predictor can be created as a weighted index
that combines published genome-wide association study (GWAS) summary statistics
across many different traits. We apply this framework to predict risk of schizophrenia
and bipolar disorder in the Psychiatric Genomics consortium data, finding substantial
heterogeneity in prediction accuracy increases across cohorts. For six additional
phenotypes in the UK Biobank data, we find increases in prediction accuracy ranging
from 0.7% for height to 47% for type 2 diabetes, when using a multi-trait predictor
that combines published summary statistics from multiple traits, as compared to
a predictor based only on one trait.
article_number: '989'
article_processing_charge: No
article_type: original
author:
- first_name: Robert M.
full_name: Maier, Robert M.
last_name: Maier
- first_name: Zhihong
full_name: Zhu, Zhihong
last_name: Zhu
- first_name: Sang Hong
full_name: Lee, Sang Hong
last_name: Lee
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Douglas M.
full_name: Ruderfer, Douglas M.
last_name: Ruderfer
- first_name: Eli A.
full_name: Stahl, Eli A.
last_name: Stahl
- first_name: Stephan
full_name: Ripke, Stephan
last_name: Ripke
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
citation:
ama: Maier RM, Zhu Z, Lee SH, et al. Improving genetic prediction by leveraging
genetic correlations among human diseases and traits. Nature Communications.
2018;9. doi:10.1038/s41467-017-02769-6
apa: Maier, R. M., Zhu, Z., Lee, S. H., Trzaskowski, M., Ruderfer, D. M., Stahl,
E. A., … Robinson, M. R. (2018). Improving genetic prediction by leveraging genetic
correlations among human diseases and traits. Nature Communications. Springer
Nature. https://doi.org/10.1038/s41467-017-02769-6
chicago: Maier, Robert M., Zhihong Zhu, Sang Hong Lee, Maciej Trzaskowski, Douglas
M. Ruderfer, Eli A. Stahl, Stephan Ripke, et al. “Improving Genetic Prediction
by Leveraging Genetic Correlations among Human Diseases and Traits.” Nature
Communications. Springer Nature, 2018. https://doi.org/10.1038/s41467-017-02769-6.
ieee: R. M. Maier et al., “Improving genetic prediction by leveraging genetic
correlations among human diseases and traits,” Nature Communications, vol.
9. Springer Nature, 2018.
ista: Maier RM, Zhu Z, Lee SH, Trzaskowski M, Ruderfer DM, Stahl EA, Ripke S, Wray
NR, Yang J, Visscher PM, Robinson MR. 2018. Improving genetic prediction by leveraging
genetic correlations among human diseases and traits. Nature Communications. 9,
989.
mla: Maier, Robert M., et al. “Improving Genetic Prediction by Leveraging Genetic
Correlations among Human Diseases and Traits.” Nature Communications, vol.
9, 989, Springer Nature, 2018, doi:10.1038/s41467-017-02769-6.
short: R.M. Maier, Z. Zhu, S.H. Lee, M. Trzaskowski, D.M. Ruderfer, E.A. Stahl,
S. Ripke, N.R. Wray, J. Yang, P.M. Visscher, M.R. Robinson, Nature Communications
9 (2018).
date_created: 2020-04-30T10:42:29Z
date_published: 2018-03-07T00:00:00Z
date_updated: 2021-01-12T08:15:03Z
day: '07'
doi: 10.1038/s41467-017-02769-6
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-017-02769-6
month: '03'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Improving genetic prediction by leveraging genetic correlations among human
diseases and traits
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7715'
abstract:
- lang: eng
text: Preference for mates with similar phenotypes; that is, assortative mating,
is widely observed in humans1,2,3,4,5 and has evolutionary consequences6,7,8.
Under Fisher's classical theory6, assortative mating is predicted to induce a
signature in the genome at trait-associated loci that can be detected and quantified.
Here, we develop and apply a method to quantify assortative mating on a specific
trait by estimating the correlation (θ) between genetic predictors of the trait
from single nucleotide polymorphisms on odd- versus even-numbered chromosomes.
We show by theory and simulation that the effect of assortative mating can be
quantified in the presence of population stratification. We applied this approach
to 32 complex traits and diseases using single nucleotide polymorphism data from
~400,000 unrelated individuals of European ancestry. We found significant evidence
of assortative mating for height (θ = 3.2%) and educational attainment (θ = 2.7%),
both of which were consistent with theoretical predictions. Overall, our results
imply that assortative mating involves multiple traits and affects the genomic
architecture of loci that are associated with these traits, and that the consequence
of mate choice can be detected from a random sample of genomes.
article_processing_charge: No
article_type: original
author:
- first_name: Loic
full_name: Yengo, Loic
last_name: Yengo
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Matthew C.
full_name: Keller, Matthew C.
last_name: Keller
- first_name: Kathryn E.
full_name: Kemper, Kathryn E.
last_name: Kemper
- first_name: Yuanhao
full_name: Yang, Yuanhao
last_name: Yang
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Jacob
full_name: Gratten, Jacob
last_name: Gratten
- first_name: Patrick
full_name: Turley, Patrick
last_name: Turley
- first_name: David
full_name: Cesarini, David
last_name: Cesarini
- first_name: Daniel J.
full_name: Benjamin, Daniel J.
last_name: Benjamin
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Michael E.
full_name: Goddard, Michael E.
last_name: Goddard
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Yengo L, Robinson MR, Keller MC, et al. Imprint of assortative mating on the
human genome. Nature Human Behaviour. 2018;2(12):948-954. doi:10.1038/s41562-018-0476-3
apa: Yengo, L., Robinson, M. R., Keller, M. C., Kemper, K. E., Yang, Y., Trzaskowski,
M., … Visscher, P. M. (2018). Imprint of assortative mating on the human genome.
Nature Human Behaviour. Springer Nature. https://doi.org/10.1038/s41562-018-0476-3
chicago: Yengo, Loic, Matthew Richard Robinson, Matthew C. Keller, Kathryn E. Kemper,
Yuanhao Yang, Maciej Trzaskowski, Jacob Gratten, et al. “Imprint of Assortative
Mating on the Human Genome.” Nature Human Behaviour. Springer Nature, 2018.
https://doi.org/10.1038/s41562-018-0476-3.
ieee: L. Yengo et al., “Imprint of assortative mating on the human genome,”
Nature Human Behaviour, vol. 2, no. 12. Springer Nature, pp. 948–954, 2018.
ista: Yengo L, Robinson MR, Keller MC, Kemper KE, Yang Y, Trzaskowski M, Gratten
J, Turley P, Cesarini D, Benjamin DJ, Wray NR, Goddard ME, Yang J, Visscher PM.
2018. Imprint of assortative mating on the human genome. Nature Human Behaviour.
2(12), 948–954.
mla: Yengo, Loic, et al. “Imprint of Assortative Mating on the Human Genome.” Nature
Human Behaviour, vol. 2, no. 12, Springer Nature, 2018, pp. 948–54, doi:10.1038/s41562-018-0476-3.
short: L. Yengo, M.R. Robinson, M.C. Keller, K.E. Kemper, Y. Yang, M. Trzaskowski,
J. Gratten, P. Turley, D. Cesarini, D.J. Benjamin, N.R. Wray, M.E. Goddard, J.
Yang, P.M. Visscher, Nature Human Behaviour 2 (2018) 948–954.
date_created: 2020-04-30T10:42:12Z
date_published: 2018-11-26T00:00:00Z
date_updated: 2021-01-12T08:15:03Z
day: '26'
doi: 10.1038/s41562-018-0476-3
extern: '1'
intvolume: ' 2'
issue: '12'
language:
- iso: eng
month: '11'
oa_version: None
page: 948-954
publication: Nature Human Behaviour
publication_identifier:
issn:
- 2397-3374
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Imprint of assortative mating on the human genome
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 2
year: '2018'
...
---
_id: '7714'
abstract:
- lang: eng
text: Health risk factors such as body mass index (BMI) and serum cholesterol are
associated with many common diseases. It often remains unclear whether the risk
factors are cause or consequence of disease, or whether the associations are the
result of confounding. We develop and apply a method (called GSMR) that performs
a multi-SNP Mendelian randomization analysis using summary-level data from genome-wide
association studies to test the causal associations of BMI, waist-to-hip ratio,
serum cholesterols, blood pressures, height, and years of schooling (EduYears)
with common diseases (sample sizes of up to 405,072). We identify a number of
causal associations including a protective effect of LDL-cholesterol against type-2
diabetes (T2D) that might explain the side effects of statins on T2D, a protective
effect of EduYears against Alzheimer’s disease, and bidirectional associations
with opposite effects (e.g., higher BMI increases the risk of T2D but the effect
of T2D on BMI is negative).
article_number: '224'
article_processing_charge: No
article_type: original
author:
- first_name: Zhihong
full_name: Zhu, Zhihong
last_name: Zhu
- first_name: Zhili
full_name: Zheng, Zhili
last_name: Zheng
- first_name: Futao
full_name: Zhang, Futao
last_name: Zhang
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Robert
full_name: Maier, Robert
last_name: Maier
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: John J.
full_name: McGrath, John J.
last_name: McGrath
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
citation:
ama: Zhu Z, Zheng Z, Zhang F, et al. Causal associations between risk factors and
common diseases inferred from GWAS summary data. Nature Communications.
2018;9. doi:10.1038/s41467-017-02317-2
apa: Zhu, Z., Zheng, Z., Zhang, F., Wu, Y., Trzaskowski, M., Maier, R., … Yang,
J. (2018). Causal associations between risk factors and common diseases inferred
from GWAS summary data. Nature Communications. Springer Nature. https://doi.org/10.1038/s41467-017-02317-2
chicago: Zhu, Zhihong, Zhili Zheng, Futao Zhang, Yang Wu, Maciej Trzaskowski, Robert
Maier, Matthew Richard Robinson, et al. “Causal Associations between Risk Factors
and Common Diseases Inferred from GWAS Summary Data.” Nature Communications.
Springer Nature, 2018. https://doi.org/10.1038/s41467-017-02317-2.
ieee: Z. Zhu et al., “Causal associations between risk factors and common
diseases inferred from GWAS summary data,” Nature Communications, vol.
9. Springer Nature, 2018.
ista: Zhu Z, Zheng Z, Zhang F, Wu Y, Trzaskowski M, Maier R, Robinson MR, McGrath
JJ, Visscher PM, Wray NR, Yang J. 2018. Causal associations between risk factors
and common diseases inferred from GWAS summary data. Nature Communications. 9,
224.
mla: Zhu, Zhihong, et al. “Causal Associations between Risk Factors and Common Diseases
Inferred from GWAS Summary Data.” Nature Communications, vol. 9, 224, Springer
Nature, 2018, doi:10.1038/s41467-017-02317-2.
short: Z. Zhu, Z. Zheng, F. Zhang, Y. Wu, M. Trzaskowski, R. Maier, M.R. Robinson,
J.J. McGrath, P.M. Visscher, N.R. Wray, J. Yang, Nature Communications 9 (2018).
date_created: 2020-04-30T10:41:55Z
date_published: 2018-01-15T00:00:00Z
date_updated: 2021-01-12T08:15:03Z
day: '15'
doi: 10.1038/s41467-017-02317-2
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-017-02317-2
month: '01'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Causal associations between risk factors and common diseases inferred from
GWAS summary data
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7713'
abstract:
- lang: eng
text: There are mean differences in complex traits among global human populations.
We hypothesize that part of the phenotypic differentiation is due to natural selection.
To address this hypothesis, we assess the differentiation in allele frequencies
of trait-associated SNPs among African, Eastern Asian, and European populations
for ten complex traits using data of large sample size (up to ~405,000). We show
that SNPs associated with height (P=2.46×10−5), waist-to-hip ratio (P=2.77×10−4),
and schizophrenia (P=3.96×10−5) are significantly more differentiated among populations
than matched “control” SNPs, suggesting that these trait-associated SNPs have
undergone natural selection. We further find that SNPs associated with height
(P=2.01×10−6) and schizophrenia (P=5.16×10−18) show significantly higher variance
in linkage disequilibrium (LD) scores across populations than control SNPs. Our
results support the hypothesis that natural selection has shaped the genetic differentiation
of complex traits, such as height and schizophrenia, among worldwide populations.
article_number: '1865'
article_processing_charge: No
article_type: original
author:
- first_name: Jing
full_name: Guo, Jing
last_name: Guo
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Zhihong
full_name: Zhu, Zhihong
last_name: Zhu
- first_name: Zhili
full_name: Zheng, Zhili
last_name: Zheng
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Jian
full_name: Zeng, Jian
last_name: Zeng
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
citation:
ama: Guo J, Wu Y, Zhu Z, et al. Global genetic differentiation of complex traits
shaped by natural selection in humans. Nature Communications. 2018;9. doi:10.1038/s41467-018-04191-y
apa: Guo, J., Wu, Y., Zhu, Z., Zheng, Z., Trzaskowski, M., Zeng, J., … Yang, J.
(2018). Global genetic differentiation of complex traits shaped by natural selection
in humans. Nature Communications. Springer Nature. https://doi.org/10.1038/s41467-018-04191-y
chicago: Guo, Jing, Yang Wu, Zhihong Zhu, Zhili Zheng, Maciej Trzaskowski, Jian
Zeng, Matthew Richard Robinson, Peter M. Visscher, and Jian Yang. “Global Genetic
Differentiation of Complex Traits Shaped by Natural Selection in Humans.” Nature
Communications. Springer Nature, 2018. https://doi.org/10.1038/s41467-018-04191-y.
ieee: J. Guo et al., “Global genetic differentiation of complex traits shaped
by natural selection in humans,” Nature Communications, vol. 9. Springer
Nature, 2018.
ista: Guo J, Wu Y, Zhu Z, Zheng Z, Trzaskowski M, Zeng J, Robinson MR, Visscher
PM, Yang J. 2018. Global genetic differentiation of complex traits shaped by natural
selection in humans. Nature Communications. 9, 1865.
mla: Guo, Jing, et al. “Global Genetic Differentiation of Complex Traits Shaped
by Natural Selection in Humans.” Nature Communications, vol. 9, 1865, Springer
Nature, 2018, doi:10.1038/s41467-018-04191-y.
short: J. Guo, Y. Wu, Z. Zhu, Z. Zheng, M. Trzaskowski, J. Zeng, M.R. Robinson,
P.M. Visscher, J. Yang, Nature Communications 9 (2018).
date_created: 2020-04-30T10:41:36Z
date_published: 2018-05-14T00:00:00Z
date_updated: 2021-01-12T08:15:02Z
day: '14'
doi: 10.1038/s41467-018-04191-y
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-018-04191-y
month: '05'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Global genetic differentiation of complex traits shaped by natural selection
in humans
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7721'
abstract:
- lang: eng
text: 'The availability of genome-wide genetic data on hundreds of thousands of
people has led to an equally rapid growth in methodologies available to analyse
these data. While the motivation for undertaking genome-wide association studies
(GWAS) is identification of genetic markers associated with complex traits, once
generated these data can be used for many other analyses. GWAS have demonstrated
that complex traits exhibit a highly polygenic genetic architecture, often with
shared genetic risk factors across traits. New methods to analyse data from GWAS
are increasingly being used to address a diverse set of questions about the aetiology
of complex traits and diseases, including psychiatric disorders. Here, we give
an overview of some of these methods and present examples of how they have contributed
to our understanding of psychiatric disorders. We consider: (i) estimation of
the extent of genetic influence on traits, (ii) uncovering of shared genetic control
between traits, (iii) predictions of genetic risk for individuals, (iv) uncovering
of causal relationships between traits, (v) identifying causal single-nucleotide
polymorphisms and genes or (vi) the detection of genetic heterogeneity. This classification
helps organise the large number of recently developed methods, although some could
be placed in more than one category. While some methods require GWAS data on individual
people, others simply use GWAS summary statistics data, allowing novel well-powered
analyses to be conducted at a low computational burden.'
article_processing_charge: No
article_type: original
author:
- first_name: R. M.
full_name: Maier, R. M.
last_name: Maier
- first_name: P. M.
full_name: Visscher, P. M.
last_name: Visscher
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: N. R.
full_name: Wray, N. R.
last_name: Wray
citation:
ama: 'Maier RM, Visscher PM, Robinson MR, Wray NR. Embracing polygenicity: A review
of methods and tools for psychiatric genetics research. Psychological Medicine.
2018;48(7):1055-1067. doi:10.1017/s0033291717002318'
apa: 'Maier, R. M., Visscher, P. M., Robinson, M. R., & Wray, N. R. (2018).
Embracing polygenicity: A review of methods and tools for psychiatric genetics
research. Psychological Medicine. Cambridge University Press. https://doi.org/10.1017/s0033291717002318'
chicago: 'Maier, R. M., P. M. Visscher, Matthew Richard Robinson, and N. R. Wray.
“Embracing Polygenicity: A Review of Methods and Tools for Psychiatric Genetics
Research.” Psychological Medicine. Cambridge University Press, 2018. https://doi.org/10.1017/s0033291717002318.'
ieee: 'R. M. Maier, P. M. Visscher, M. R. Robinson, and N. R. Wray, “Embracing polygenicity:
A review of methods and tools for psychiatric genetics research,” Psychological
Medicine, vol. 48, no. 7. Cambridge University Press, pp. 1055–1067, 2018.'
ista: 'Maier RM, Visscher PM, Robinson MR, Wray NR. 2018. Embracing polygenicity:
A review of methods and tools for psychiatric genetics research. Psychological
Medicine. 48(7), 1055–1067.'
mla: 'Maier, R. M., et al. “Embracing Polygenicity: A Review of Methods and Tools
for Psychiatric Genetics Research.” Psychological Medicine, vol. 48, no.
7, Cambridge University Press, 2018, pp. 1055–67, doi:10.1017/s0033291717002318.'
short: R.M. Maier, P.M. Visscher, M.R. Robinson, N.R. Wray, Psychological Medicine
48 (2018) 1055–1067.
date_created: 2020-04-30T10:44:35Z
date_published: 2018-05-01T00:00:00Z
date_updated: 2021-01-12T08:15:05Z
day: '01'
doi: 10.1017/s0033291717002318
extern: '1'
intvolume: ' 48'
issue: '7'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1017/s0033291717002318
month: '05'
oa: 1
oa_version: Published Version
page: 1055-1067
publication: Psychological Medicine
publication_identifier:
issn:
- 0033-2917
- 1469-8978
publication_status: published
publisher: Cambridge University Press
quality_controlled: '1'
status: public
title: 'Embracing polygenicity: A review of methods and tools for psychiatric genetics
research'
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 48
year: '2018'
...
---
_id: '7723'
abstract:
- lang: eng
text: Genome-wide association studies (GWAS) have identified thousands of loci that
are robustly associated with complex diseases. The use of linear mixed model (LMM)
methodology for GWAS is becoming more prevalent due to its ability to control
for population structure and cryptic relatedness and to increase power. The odds
ratio (OR) is a common measure of the association of a disease with an exposure
(e.g., a genetic variant) and is readably available from logistic regression.
However, when the LMM is applied to all-or-none traits it provides estimates of
genetic effects on the observed 0–1 scale, a different scale to that in logistic
regression. This limits the comparability of results across studies, for example
in a meta-analysis, and makes the interpretation of the magnitude of an effect
from an LMM GWAS difficult. In this study, we derived transformations from the
genetic effects estimated under the LMM to the OR that only rely on summary statistics.
To test the proposed transformations, we used real genotypes from two large, publicly
available data sets to simulate all-or-none phenotypes for a set of scenarios
that differ in underlying model, disease prevalence, and heritability. Furthermore,
we applied these transformations to GWAS summary statistics for type 2 diabetes
generated from 108,042 individuals in the UK Biobank. In both simulation and real-data
application, we observed very high concordance between the transformed OR from
the LMM and either the simulated truth or estimates from logistic regression.
The transformations derived and validated in this study improve the comparability
of results from prospective and already performed LMM GWAS on complex diseases
by providing a reliable transformation to a common comparative scale for the genetic
effects.
article_processing_charge: No
article_type: original
author:
- first_name: Luke R.
full_name: Lloyd-Jones, Luke R.
last_name: Lloyd-Jones
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Lloyd-Jones LR, Robinson MR, Yang J, Visscher PM. Transformation of summary
statistics from linear mixed model association on all-or-none traits to odds ratio.
Genetics. 2018;208(4):1397-1408. doi:10.1534/genetics.117.300360
apa: Lloyd-Jones, L. R., Robinson, M. R., Yang, J., & Visscher, P. M. (2018).
Transformation of summary statistics from linear mixed model association on all-or-none
traits to odds ratio. Genetics. Genetics Society of America. https://doi.org/10.1534/genetics.117.300360
chicago: Lloyd-Jones, Luke R., Matthew Richard Robinson, Jian Yang, and Peter M.
Visscher. “Transformation of Summary Statistics from Linear Mixed Model Association
on All-or-None Traits to Odds Ratio.” Genetics. Genetics Society of America,
2018. https://doi.org/10.1534/genetics.117.300360.
ieee: L. R. Lloyd-Jones, M. R. Robinson, J. Yang, and P. M. Visscher, “Transformation
of summary statistics from linear mixed model association on all-or-none traits
to odds ratio,” Genetics, vol. 208, no. 4. Genetics Society of America,
pp. 1397–1408, 2018.
ista: Lloyd-Jones LR, Robinson MR, Yang J, Visscher PM. 2018. Transformation of
summary statistics from linear mixed model association on all-or-none traits to
odds ratio. Genetics. 208(4), 1397–1408.
mla: Lloyd-Jones, Luke R., et al. “Transformation of Summary Statistics from Linear
Mixed Model Association on All-or-None Traits to Odds Ratio.” Genetics,
vol. 208, no. 4, Genetics Society of America, 2018, pp. 1397–408, doi:10.1534/genetics.117.300360.
short: L.R. Lloyd-Jones, M.R. Robinson, J. Yang, P.M. Visscher, Genetics 208 (2018)
1397–1408.
date_created: 2020-04-30T10:45:19Z
date_published: 2018-04-01T00:00:00Z
date_updated: 2021-01-12T08:15:06Z
day: '01'
doi: 10.1534/genetics.117.300360
extern: '1'
intvolume: ' 208'
issue: '4'
language:
- iso: eng
month: '04'
oa_version: None
page: 1397-1408
publication: Genetics
publication_identifier:
issn:
- 0016-6731
- 1943-2631
publication_status: published
publisher: Genetics Society of America
quality_controlled: '1'
status: public
title: Transformation of summary statistics from linear mixed model association on
all-or-none traits to odds ratio
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 208
year: '2018'
...
---
_id: '7722'
abstract:
- lang: eng
text: We develop a Bayesian mixed linear model that simultaneously estimates single-nucleotide
polymorphism (SNP)-based heritability, polygenicity (proportion of SNPs with nonzero
effects), and the relationship between SNP effect size and minor allele frequency
for complex traits in conventionally unrelated individuals using genome-wide SNP
data. We apply the method to 28 complex traits in the UK Biobank data (N = 126,752)
and show that on average, 6% of SNPs have nonzero effects, which in total explain
22% of phenotypic variance. We detect significant (P < 0.05/28) signatures of
natural selection in the genetic architecture of 23 traits, including reproductive,
cardiovascular, and anthropometric traits, as well as educational attainment.
The significant estimates of the relationship between effect size and minor allele
frequency in complex traits are consistent with a model of negative (or purifying)
selection, as confirmed by forward simulation. We conclude that negative selection
acts pervasively on the genetic variants associated with human complex traits.
article_processing_charge: No
article_type: original
author:
- first_name: Jian
full_name: Zeng, Jian
last_name: Zeng
- first_name: Ronald
full_name: de Vlaming, Ronald
last_name: de Vlaming
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Luke R.
full_name: Lloyd-Jones, Luke R.
last_name: Lloyd-Jones
- first_name: Loic
full_name: Yengo, Loic
last_name: Yengo
- first_name: Chloe X.
full_name: Yap, Chloe X.
last_name: Yap
- first_name: Angli
full_name: Xue, Angli
last_name: Xue
- first_name: Julia
full_name: Sidorenko, Julia
last_name: Sidorenko
- first_name: Allan F.
full_name: McRae, Allan F.
last_name: McRae
- first_name: Joseph E.
full_name: Powell, Joseph E.
last_name: Powell
- first_name: Grant W.
full_name: Montgomery, Grant W.
last_name: Montgomery
- first_name: Andres
full_name: Metspalu, Andres
last_name: Metspalu
- first_name: Tonu
full_name: Esko, Tonu
last_name: Esko
- first_name: Greg
full_name: Gibson, Greg
last_name: Gibson
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
citation:
ama: Zeng J, de Vlaming R, Wu Y, et al. Signatures of negative selection in the
genetic architecture of human complex traits. Nature Genetics. 2018;50(5):746-753.
doi:10.1038/s41588-018-0101-4
apa: Zeng, J., de Vlaming, R., Wu, Y., Robinson, M. R., Lloyd-Jones, L. R., Yengo,
L., … Yang, J. (2018). Signatures of negative selection in the genetic architecture
of human complex traits. Nature Genetics. Springer Nature. https://doi.org/10.1038/s41588-018-0101-4
chicago: Zeng, Jian, Ronald de Vlaming, Yang Wu, Matthew Richard Robinson, Luke
R. Lloyd-Jones, Loic Yengo, Chloe X. Yap, et al. “Signatures of Negative Selection
in the Genetic Architecture of Human Complex Traits.” Nature Genetics.
Springer Nature, 2018. https://doi.org/10.1038/s41588-018-0101-4.
ieee: J. Zeng et al., “Signatures of negative selection in the genetic architecture
of human complex traits,” Nature Genetics, vol. 50, no. 5. Springer Nature,
pp. 746–753, 2018.
ista: Zeng J, de Vlaming R, Wu Y, Robinson MR, Lloyd-Jones LR, Yengo L, Yap CX,
Xue A, Sidorenko J, McRae AF, Powell JE, Montgomery GW, Metspalu A, Esko T, Gibson
G, Wray NR, Visscher PM, Yang J. 2018. Signatures of negative selection in the
genetic architecture of human complex traits. Nature Genetics. 50(5), 746–753.
mla: Zeng, Jian, et al. “Signatures of Negative Selection in the Genetic Architecture
of Human Complex Traits.” Nature Genetics, vol. 50, no. 5, Springer Nature,
2018, pp. 746–53, doi:10.1038/s41588-018-0101-4.
short: J. Zeng, R. de Vlaming, Y. Wu, M.R. Robinson, L.R. Lloyd-Jones, L. Yengo,
C.X. Yap, A. Xue, J. Sidorenko, A.F. McRae, J.E. Powell, G.W. Montgomery, A. Metspalu,
T. Esko, G. Gibson, N.R. Wray, P.M. Visscher, J. Yang, Nature Genetics 50 (2018)
746–753.
date_created: 2020-04-30T10:44:57Z
date_published: 2018-04-16T00:00:00Z
date_updated: 2021-01-12T08:15:06Z
day: '16'
doi: 10.1038/s41588-018-0101-4
extern: '1'
intvolume: ' 50'
issue: '5'
language:
- iso: eng
month: '04'
oa_version: None
page: 746-753
publication: Nature Genetics
publication_identifier:
issn:
- 1061-4036
- 1546-1718
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Signatures of negative selection in the genetic architecture of human complex
traits
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 50
year: '2018'
...
---
_id: '7724'
abstract:
- lang: eng
text: Modern molecular genetic datasets, primarily collected to study the biology
of human health and disease, can be used to directly measure the action of natural
selection and reveal important features of contemporary human evolution. Here
we leverage the UK Biobank data to test for the presence of linear and nonlinear
natural selection in a contemporary population of the United Kingdom. We obtain
phenotypic and genetic evidence consistent with the action of linear/directional
selection. Phenotypic evidence suggests that stabilizing selection, which acts
to reduce variance in the population without necessarily modifying the population
mean, is widespread and relatively weak in comparison with estimates from other
species.
article_processing_charge: No
article_type: original
author:
- first_name: Jaleal S.
full_name: Sanjak, Jaleal S.
last_name: Sanjak
- first_name: Julia
full_name: Sidorenko, Julia
last_name: Sidorenko
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Kevin R.
full_name: Thornton, Kevin R.
last_name: Thornton
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Sanjak JS, Sidorenko J, Robinson MR, Thornton KR, Visscher PM. Evidence of
directional and stabilizing selection in contemporary humans. Proceedings of
the National Academy of Sciences. 2018;115(1):151-156. doi:10.1073/pnas.1707227114
apa: Sanjak, J. S., Sidorenko, J., Robinson, M. R., Thornton, K. R., & Visscher,
P. M. (2018). Evidence of directional and stabilizing selection in contemporary
humans. Proceedings of the National Academy of Sciences. Proceedings of
the National Academy of Sciences. https://doi.org/10.1073/pnas.1707227114
chicago: Sanjak, Jaleal S., Julia Sidorenko, Matthew Richard Robinson, Kevin R.
Thornton, and Peter M. Visscher. “Evidence of Directional and Stabilizing Selection
in Contemporary Humans.” Proceedings of the National Academy of Sciences.
Proceedings of the National Academy of Sciences, 2018. https://doi.org/10.1073/pnas.1707227114.
ieee: J. S. Sanjak, J. Sidorenko, M. R. Robinson, K. R. Thornton, and P. M. Visscher,
“Evidence of directional and stabilizing selection in contemporary humans,” Proceedings
of the National Academy of Sciences, vol. 115, no. 1. Proceedings of the National
Academy of Sciences, pp. 151–156, 2018.
ista: Sanjak JS, Sidorenko J, Robinson MR, Thornton KR, Visscher PM. 2018. Evidence
of directional and stabilizing selection in contemporary humans. Proceedings of
the National Academy of Sciences. 115(1), 151–156.
mla: Sanjak, Jaleal S., et al. “Evidence of Directional and Stabilizing Selection
in Contemporary Humans.” Proceedings of the National Academy of Sciences,
vol. 115, no. 1, Proceedings of the National Academy of Sciences, 2018, pp. 151–56,
doi:10.1073/pnas.1707227114.
short: J.S. Sanjak, J. Sidorenko, M.R. Robinson, K.R. Thornton, P.M. Visscher, Proceedings
of the National Academy of Sciences 115 (2018) 151–156.
date_created: 2020-04-30T10:45:43Z
date_published: 2018-01-02T00:00:00Z
date_updated: 2021-01-12T08:15:07Z
day: '02'
doi: 10.1073/pnas.1707227114
extern: '1'
intvolume: ' 115'
issue: '1'
language:
- iso: eng
month: '01'
oa_version: None
page: 151-156
publication: Proceedings of the National Academy of Sciences
publication_identifier:
issn:
- 0027-8424
- 1091-6490
publication_status: published
publisher: Proceedings of the National Academy of Sciences
quality_controlled: '1'
related_material:
link:
- relation: erratum
url: https://doi.org/10.1073/pnas.1806837115
status: public
title: Evidence of directional and stabilizing selection in contemporary humans
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 115
year: '2018'
...
---
_id: '7754'
abstract:
- lang: eng
text: Creating a selective gel that filters particles based on their interactions
is a major goal of nanotechnology, with far-reaching implications from drug delivery
to controlling assembly pathways. However, this is particularly difficult when
the particles are larger than the gel’s characteristic mesh size because such
particles cannot passively pass through the gel. Thus, filtering requires the
interacting particles to transiently reorganize the gel’s internal structure.
While significant advances, e.g., in DNA engineering, have enabled the design
of nano-materials with programmable interactions, it is not clear what physical
principles such a designer gel could exploit to achieve selective permeability.
We present an equilibrium mechanism where crosslink binding dynamics are affected
by interacting particles such that particle diffusion is enhanced. In addition
to revealing specific design rules for manufacturing selective gels, our results
have the potential to explain the origin of selective permeability in certain
biological materials, including the nuclear pore complex.
article_number: '4348'
article_processing_charge: No
article_type: original
author:
- first_name: Carl Peter
full_name: Goodrich, Carl Peter
id: EB352CD2-F68A-11E9-89C5-A432E6697425
last_name: Goodrich
orcid: 0000-0002-1307-5074
- first_name: Michael P.
full_name: Brenner, Michael P.
last_name: Brenner
- first_name: Katharina
full_name: Ribbeck, Katharina
last_name: Ribbeck
citation:
ama: Goodrich CP, Brenner MP, Ribbeck K. Enhanced diffusion by binding to the crosslinks
of a polymer gel. Nature Communications. 2018;9. doi:10.1038/s41467-018-06851-5
apa: Goodrich, C. P., Brenner, M. P., & Ribbeck, K. (2018). Enhanced diffusion
by binding to the crosslinks of a polymer gel. Nature Communications. Springer
Nature. https://doi.org/10.1038/s41467-018-06851-5
chicago: Goodrich, Carl Peter, Michael P. Brenner, and Katharina Ribbeck. “Enhanced
Diffusion by Binding to the Crosslinks of a Polymer Gel.” Nature Communications.
Springer Nature, 2018. https://doi.org/10.1038/s41467-018-06851-5.
ieee: C. P. Goodrich, M. P. Brenner, and K. Ribbeck, “Enhanced diffusion by binding
to the crosslinks of a polymer gel,” Nature Communications, vol. 9. Springer
Nature, 2018.
ista: Goodrich CP, Brenner MP, Ribbeck K. 2018. Enhanced diffusion by binding to
the crosslinks of a polymer gel. Nature Communications. 9, 4348.
mla: Goodrich, Carl Peter, et al. “Enhanced Diffusion by Binding to the Crosslinks
of a Polymer Gel.” Nature Communications, vol. 9, 4348, Springer Nature,
2018, doi:10.1038/s41467-018-06851-5.
short: C.P. Goodrich, M.P. Brenner, K. Ribbeck, Nature Communications 9 (2018).
date_created: 2020-04-30T11:38:01Z
date_published: 2018-10-19T00:00:00Z
date_updated: 2021-01-12T08:15:18Z
day: '19'
doi: 10.1038/s41467-018-06851-5
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-018-06851-5
month: '10'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Enhanced diffusion by binding to the crosslinks of a polymer gel
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7783'
abstract:
- lang: eng
text: The Drosophila Genetic Reference Panel (DGRP) serves as a valuable resource
to better understand the genetic landscapes underlying quantitative traits. However,
such DGRP studies have so far only focused on nuclear genetic variants. To address
this, we sequenced the mitochondrial genomes of >170 DGRP lines, identifying 229
variants including 21 indels and 7 frameshifts. We used our mitochondrial variation
data to identify 12 genetically distinct mitochondrial haplotypes, thus revealing
important population structure at the mitochondrial level. We further examined
whether this population structure was reflected on the nuclear genome by screening
for the presence of potential mito-nuclear genetic incompatibilities in the form
of significant genotype ratio distortions (GRDs) between mitochondrial and nuclear
variants. In total, we detected a remarkable 1,845 mito-nuclear GRDs, with the
highest enrichment observed in a 40 kb region around the gene Sex-lethal (Sxl).
Intriguingly, downstream phenotypic analyses did not uncover major fitness effects
associated with these GRDs, suggesting that a large number of mito-nuclear GRDs
may reflect population structure at the mitochondrial level rather than actual
genomic incompatibilities. This is further supported by the GRD landscape showing
particular large genomic regions associated with a single mitochondrial haplotype.
Next, we explored the functional relevance of the detected mitochondrial haplotypes
through an association analysis on a set of 259 assembled, non-correlating DGRP
phenotypes. We found multiple significant associations with stress- and metabolism-related
phenotypes, including food intake in males. We validated the latter observation
by reciprocal swapping of mitochondrial genomes from high food intake DGRP lines
to low food intake ones. In conclusion, our study uncovered important mitochondrial
population structure and haplotype-specific metabolic variation in the DGRP, thus
demonstrating the significance of incorporating mitochondrial haplotypes in geno-phenotype
relationship studies.
article_processing_charge: No
author:
- first_name: Roel P.J.
full_name: Bevers, Roel P.J.
last_name: Bevers
- first_name: Maria
full_name: Litovchenko, Maria
last_name: Litovchenko
- first_name: Adamandia
full_name: Kapopoulou, Adamandia
last_name: Kapopoulou
- first_name: Virginie S.
full_name: Braman, Virginie S.
last_name: Braman
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Johan
full_name: Auwerx, Johan
last_name: Auwerx
- first_name: Brian
full_name: Hollis, Brian
last_name: Hollis
- first_name: Bart
full_name: Deplancke, Bart
last_name: Deplancke
citation:
ama: Bevers RPJ, Litovchenko M, Kapopoulou A, et al. Extensive mitochondrial population
structure and haplotype-specific phenotypic variation in the Drosophila Genetic
Reference Panel. bioRxiv. 2018.
apa: Bevers, R. P. J., Litovchenko, M., Kapopoulou, A., Braman, V. S., Robinson,
M. R., Auwerx, J., … Deplancke, B. (2018). Extensive mitochondrial population
structure and haplotype-specific phenotypic variation in the Drosophila Genetic
Reference Panel. bioRxiv. Cold Spring Harbor Laboratory.
chicago: Bevers, Roel P.J., Maria Litovchenko, Adamandia Kapopoulou, Virginie S.
Braman, Matthew Richard Robinson, Johan Auwerx, Brian Hollis, and Bart Deplancke.
“Extensive Mitochondrial Population Structure and Haplotype-Specific Phenotypic
Variation in the Drosophila Genetic Reference Panel.” BioRxiv. Cold Spring
Harbor Laboratory, 2018.
ieee: R. P. J. Bevers et al., “Extensive mitochondrial population structure
and haplotype-specific phenotypic variation in the Drosophila Genetic Reference
Panel,” bioRxiv. Cold Spring Harbor Laboratory, 2018.
ista: Bevers RPJ, Litovchenko M, Kapopoulou A, Braman VS, Robinson MR, Auwerx J,
Hollis B, Deplancke B. 2018. Extensive mitochondrial population structure and
haplotype-specific phenotypic variation in the Drosophila Genetic Reference Panel.
bioRxiv, .
mla: Bevers, Roel P. J., et al. “Extensive Mitochondrial Population Structure and
Haplotype-Specific Phenotypic Variation in the Drosophila Genetic Reference Panel.”
BioRxiv, Cold Spring Harbor Laboratory, 2018.
short: R.P.J. Bevers, M. Litovchenko, A. Kapopoulou, V.S. Braman, M.R. Robinson,
J. Auwerx, B. Hollis, B. Deplancke, BioRxiv (2018).
date_created: 2020-04-30T13:09:37Z
date_published: 2018-11-09T00:00:00Z
date_updated: 2021-01-12T08:15:30Z
day: '09'
extern: '1'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: 'https://doi.org/10.1101/466771 '
month: '11'
oa: 1
oa_version: Preprint
page: '49'
publication: bioRxiv
publication_status: published
publisher: Cold Spring Harbor Laboratory
status: public
title: Extensive mitochondrial population structure and haplotype-specific phenotypic
variation in the Drosophila Genetic Reference Panel
type: preprint
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
year: '2018'
...
---
_id: '6001'
abstract:
- lang: eng
text: "The concurrent memory reclamation problem is that of devising a way for a
deallocating thread to verify that no other concurrent threads hold references
to a memory block being deallocated. To date, in the absence of automatic garbage
collection, there is no satisfactory solution to this problem; existing tracking
methods like hazard pointers, reference counters, or epoch-based techniques like
RCU are either prohibitively expensive or require significant programming expertise
to the extent that implementing them efficiently can be worthy of a publication.
None of the existing techniques are automatic or even semi-automated.\r\nIn this
article, we take a new approach to concurrent memory reclamation. Instead of manually
tracking access to memory locations as done in techniques like hazard pointers,
or restricting shared accesses to specific epoch boundaries as in RCU, our algorithm,
called ThreadScan, leverages operating system signaling to automatically detect
which memory locations are being accessed by concurrent threads.\r\nInitial empirical
evidence shows that ThreadScan scales surprisingly well and requires negligible
programming effort beyond the standard use of Malloc and Free."
article_number: '18'
author:
- first_name: Dan-Adrian
full_name: Alistarh, Dan-Adrian
id: 4A899BFC-F248-11E8-B48F-1D18A9856A87
last_name: Alistarh
orcid: 0000-0003-3650-940X
- first_name: William
full_name: Leiserson, William
last_name: Leiserson
- first_name: Alexander
full_name: Matveev, Alexander
last_name: Matveev
- first_name: Nir
full_name: Shavit, Nir
last_name: Shavit
citation:
ama: 'Alistarh D-A, Leiserson W, Matveev A, Shavit N. ThreadScan: Automatic and
scalable memory reclamation. ACM Transactions on Parallel Computing. 2018;4(4).
doi:10.1145/3201897'
apa: 'Alistarh, D.-A., Leiserson, W., Matveev, A., & Shavit, N. (2018). ThreadScan:
Automatic and scalable memory reclamation. ACM Transactions on Parallel Computing.
Association for Computing Machinery. https://doi.org/10.1145/3201897'
chicago: 'Alistarh, Dan-Adrian, William Leiserson, Alexander Matveev, and Nir Shavit.
“ThreadScan: Automatic and Scalable Memory Reclamation.” ACM Transactions on
Parallel Computing. Association for Computing Machinery, 2018. https://doi.org/10.1145/3201897.'
ieee: 'D.-A. Alistarh, W. Leiserson, A. Matveev, and N. Shavit, “ThreadScan: Automatic
and scalable memory reclamation,” ACM Transactions on Parallel Computing,
vol. 4, no. 4. Association for Computing Machinery, 2018.'
ista: 'Alistarh D-A, Leiserson W, Matveev A, Shavit N. 2018. ThreadScan: Automatic
and scalable memory reclamation. ACM Transactions on Parallel Computing. 4(4),
18.'
mla: 'Alistarh, Dan-Adrian, et al. “ThreadScan: Automatic and Scalable Memory Reclamation.”
ACM Transactions on Parallel Computing, vol. 4, no. 4, 18, Association
for Computing Machinery, 2018, doi:10.1145/3201897.'
short: D.-A. Alistarh, W. Leiserson, A. Matveev, N. Shavit, ACM Transactions on
Parallel Computing 4 (2018).
date_created: 2019-02-14T13:24:11Z
date_published: 2018-09-01T00:00:00Z
date_updated: 2023-02-23T13:17:54Z
day: '01'
department:
- _id: DaAl
doi: 10.1145/3201897
intvolume: ' 4'
issue: '4'
language:
- iso: eng
month: '09'
oa_version: None
publication: ACM Transactions on Parallel Computing
publication_identifier:
issn:
- 2329-4949
publication_status: published
publisher: Association for Computing Machinery
quality_controlled: '1'
related_material:
record:
- id: '779'
relation: earlier_version
status: public
scopus_import: 1
status: public
title: 'ThreadScan: Automatic and scalable memory reclamation'
type: journal_article
user_id: 3E5EF7F0-F248-11E8-B48F-1D18A9856A87
volume: 4
year: '2018'
...
---
_id: '7812'
abstract:
- lang: eng
text: Deep neural networks (DNNs) continue to make significant advances, solving
tasks from image classification to translation or reinforcement learning. One
aspect of the field receiving considerable attention is efficiently executing
deep models in resource-constrained environments, such as mobile or embedded devices.
This paper focuses on this problem, and proposes two new compression methods,
which jointly leverage weight quantization and distillation of larger teacher
networks into smaller student networks. The first method we propose is called
quantized distillation and leverages distillation during the training process,
by incorporating distillation loss, expressed with respect to the teacher, into
the training of a student network whose weights are quantized to a limited set
of levels. The second method, differentiable quantization, optimizes the location
of quantization points through stochastic gradient descent, to better fit the
behavior of the teacher model. We validate both methods through experiments on
convolutional and recurrent architectures. We show that quantized shallow students
can reach similar accuracy levels to full-precision teacher models, while providing
order of magnitude compression, and inference speedup that is linear in the depth
reduction. In sum, our results enable DNNs for resource-constrained environments
to leverage architecture and accuracy advances developed on more powerful devices.
article_processing_charge: No
author:
- first_name: Antonio
full_name: Polino, Antonio
last_name: Polino
- first_name: Razvan
full_name: Pascanu, Razvan
last_name: Pascanu
- first_name: Dan-Adrian
full_name: Alistarh, Dan-Adrian
id: 4A899BFC-F248-11E8-B48F-1D18A9856A87
last_name: Alistarh
orcid: 0000-0003-3650-940X
citation:
ama: 'Polino A, Pascanu R, Alistarh D-A. Model compression via distillation and
quantization. In: 6th International Conference on Learning Representations.
; 2018.'
apa: Polino, A., Pascanu, R., & Alistarh, D.-A. (2018). Model compression via
distillation and quantization. In 6th International Conference on Learning
Representations. Vancouver, Canada.
chicago: Polino, Antonio, Razvan Pascanu, and Dan-Adrian Alistarh. “Model Compression
via Distillation and Quantization.” In 6th International Conference on Learning
Representations, 2018.
ieee: A. Polino, R. Pascanu, and D.-A. Alistarh, “Model compression via distillation
and quantization,” in 6th International Conference on Learning Representations,
Vancouver, Canada, 2018.
ista: 'Polino A, Pascanu R, Alistarh D-A. 2018. Model compression via distillation
and quantization. 6th International Conference on Learning Representations. ICLR:
International Conference on Learning Representations.'
mla: Polino, Antonio, et al. “Model Compression via Distillation and Quantization.”
6th International Conference on Learning Representations, 2018.
short: A. Polino, R. Pascanu, D.-A. Alistarh, in:, 6th International Conference
on Learning Representations, 2018.
conference:
end_date: 2018-05-03
location: Vancouver, Canada
name: 'ICLR: International Conference on Learning Representations'
start_date: 2018-04-30
date_created: 2020-05-10T22:00:51Z
date_published: 2018-05-01T00:00:00Z
date_updated: 2023-02-23T13:18:41Z
day: '01'
ddc:
- '000'
department:
- _id: DaAl
external_id:
arxiv:
- '1802.05668'
file:
- access_level: open_access
checksum: a4336c167978e81891970e4e4517a8c3
content_type: application/pdf
creator: dernst
date_created: 2020-05-26T13:02:00Z
date_updated: 2020-07-14T12:48:03Z
file_id: '7894'
file_name: 2018_ICLR_Polino.pdf
file_size: 308339
relation: main_file
file_date_updated: 2020-07-14T12:48:03Z
has_accepted_license: '1'
language:
- iso: eng
month: '05'
oa: 1
oa_version: Published Version
publication: 6th International Conference on Learning Representations
publication_status: published
quality_controlled: '1'
scopus_import: 1
status: public
title: Model compression via distillation and quantization
type: conference
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
year: '2018'
...
---
_id: '7983'
abstract:
- lang: ger
text: 'Feste Alkalicarbonate sind universelle Bestandteile von Passivierungsschichten
an Materialien für Interkalationsbatterien, übliche Nebenprodukte in Metall‐O2‐Batterien,
und es wird angenommen, dass sie sich reversibel in Metall‐O2 /CO2‐Zellen bilden
und zersetzen. In all diesen Kathoden zersetzt sich Li2CO3 zu CO2, sobald es Spannungen
>3.8 V vs. Li/Li+ ausgesetzt wird. Beachtenswert ist, dass keine O2‐Entwicklung
detektiert wird, wie gemäß der Zersetzungsreaktion 2 Li2CO3 → 4 Li+ + 4 e− + 2 CO2
+ O2 zu erwarten wäre. Deswegen war der Verbleib eines der O‐Atome ungeklärt und
wurde nicht identifizierten parasitären Reaktionen zugerechnet. Hier zeigen wir,
dass hochreaktiver Singulett‐Sauerstoff (1O2) bei der Oxidation von Li2CO3 in
einem aprotischen Elektrolyten gebildet und daher nicht als O2 freigesetzt wird.
Diese Ergebnisse haben weitreichende Auswirkungen auf die langfristige Zyklisierbarkeit
von Batterien: sie untermauern die Wichtigkeit, 1O2 in Metall‐O2‐Batterien zu
verhindern, stellen die Möglichkeit einer reversiblen Metall‐O2 /CO2‐Batterie
basierend auf einem Carbonat‐Entladeprodukt in Frage und helfen, Grenzflächenreaktivität
von Übergangsmetallkathoden mit Li2CO3‐Resten zu erklären.'
article_processing_charge: No
article_type: original
author:
- first_name: Nika
full_name: Mahne, Nika
last_name: Mahne
- first_name: Sara E.
full_name: Renfrew, Sara E.
last_name: Renfrew
- first_name: Bryan D.
full_name: McCloskey, Bryan D.
last_name: McCloskey
- first_name: Stefan Alexander
full_name: Freunberger, Stefan Alexander
id: A8CA28E6-CE23-11E9-AD2D-EC27E6697425
last_name: Freunberger
orcid: 0000-0003-2902-5319
citation:
ama: Mahne N, Renfrew SE, McCloskey BD, Freunberger SA. Elektrochemische Oxidation
von Lithiumcarbonat generiert Singulett-Sauerstoff. Angewandte Chemie.
2018;130(19):5627-5631. doi:10.1002/ange.201802277
apa: Mahne, N., Renfrew, S. E., McCloskey, B. D., & Freunberger, S. A. (2018).
Elektrochemische Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff.
Angewandte Chemie. Wiley. https://doi.org/10.1002/ange.201802277
chicago: Mahne, Nika, Sara E. Renfrew, Bryan D. McCloskey, and Stefan Alexander
Freunberger. “Elektrochemische Oxidation von Lithiumcarbonat Generiert Singulett-Sauerstoff.”
Angewandte Chemie. Wiley, 2018. https://doi.org/10.1002/ange.201802277.
ieee: N. Mahne, S. E. Renfrew, B. D. McCloskey, and S. A. Freunberger, “Elektrochemische
Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff,” Angewandte Chemie,
vol. 130, no. 19. Wiley, pp. 5627–5631, 2018.
ista: Mahne N, Renfrew SE, McCloskey BD, Freunberger SA. 2018. Elektrochemische
Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff. Angewandte Chemie.
130(19), 5627–5631.
mla: Mahne, Nika, et al. “Elektrochemische Oxidation von Lithiumcarbonat Generiert
Singulett-Sauerstoff.” Angewandte Chemie, vol. 130, no. 19, Wiley, 2018,
pp. 5627–31, doi:10.1002/ange.201802277.
short: N. Mahne, S.E. Renfrew, B.D. McCloskey, S.A. Freunberger, Angewandte Chemie
130 (2018) 5627–5631.
date_created: 2020-06-19T08:33:24Z
date_published: 2018-05-04T00:00:00Z
date_updated: 2021-01-12T08:16:21Z
day: '04'
ddc:
- '540'
doi: 10.1002/ange.201802277
extern: '1'
file:
- access_level: open_access
checksum: 81506e0f7079e1e3591f3cd9f626bf67
content_type: application/pdf
creator: dernst
date_created: 2020-06-19T11:58:06Z
date_updated: 2020-07-14T12:48:06Z
file_id: '7988'
file_name: 2018_AngChemieDT_Mahne.pdf
file_size: 674789
relation: main_file
file_date_updated: 2020-07-14T12:48:06Z
has_accepted_license: '1'
intvolume: ' 130'
issue: '19'
language:
- iso: eng
month: '05'
oa: 1
oa_version: Published Version
page: 5627-5631
publication: Angewandte Chemie
publication_identifier:
issn:
- 0044-8249
publication_status: published
publisher: Wiley
quality_controlled: '1'
status: public
title: Elektrochemische Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff
tmp:
image: /images/cc_by_nc_nd.png
legal_code_url: https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode
name: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
(CC BY-NC-ND 4.0)
short: CC BY-NC-ND (4.0)
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 130
year: '2018'
...
---
_id: '8015'
abstract:
- lang: eng
text: 'The neural code of cortical processing remains uncracked; however, it must
necessarily rely on faithful signal propagation between cortical areas. In this
issue of Neuron, Joglekar et al. (2018) show that strong inter-areal excitation
balanced by local inhibition can enable reliable signal propagation in data-constrained
network models of macaque cortex. '
article_processing_charge: No
article_type: original
author:
- first_name: Jake P.
full_name: Stroud, Jake P.
last_name: Stroud
- first_name: Tim P
full_name: Vogels, Tim P
id: CB6FF8D2-008F-11EA-8E08-2637E6697425
last_name: Vogels
orcid: 0000-0003-3295-6181
citation:
ama: 'Stroud JP, Vogels TP. Cortical signal propagation: Balance, amplify, transmit.
Neuron. 2018;98(1):8-9. doi:10.1016/j.neuron.2018.03.028'
apa: 'Stroud, J. P., & Vogels, T. P. (2018). Cortical signal propagation: Balance,
amplify, transmit. Neuron. Elsevier. https://doi.org/10.1016/j.neuron.2018.03.028'
chicago: 'Stroud, Jake P., and Tim P Vogels. “Cortical Signal Propagation: Balance,
Amplify, Transmit.” Neuron. Elsevier, 2018. https://doi.org/10.1016/j.neuron.2018.03.028.'
ieee: 'J. P. Stroud and T. P. Vogels, “Cortical signal propagation: Balance, amplify,
transmit,” Neuron, vol. 98, no. 1. Elsevier, pp. 8–9, 2018.'
ista: 'Stroud JP, Vogels TP. 2018. Cortical signal propagation: Balance, amplify,
transmit. Neuron. 98(1), 8–9.'
mla: 'Stroud, Jake P., and Tim P. Vogels. “Cortical Signal Propagation: Balance,
Amplify, Transmit.” Neuron, vol. 98, no. 1, Elsevier, 2018, pp. 8–9, doi:10.1016/j.neuron.2018.03.028.'
short: J.P. Stroud, T.P. Vogels, Neuron 98 (2018) 8–9.
date_created: 2020-06-25T12:53:39Z
date_published: 2018-04-04T00:00:00Z
date_updated: 2021-01-12T08:16:31Z
day: '04'
doi: 10.1016/j.neuron.2018.03.028
extern: '1'
external_id:
pmid:
- '29621492'
intvolume: ' 98'
issue: '1'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1016/j.neuron.2018.03.028
month: '04'
oa: 1
oa_version: Published Version
page: 8-9
pmid: 1
publication: Neuron
publication_identifier:
issn:
- 0896-6273
publication_status: published
publisher: Elsevier
quality_controlled: '1'
status: public
title: 'Cortical signal propagation: Balance, amplify, transmit'
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 98
year: '2018'
...
---
_id: '8073'
abstract:
- lang: eng
text: Motor cortex (M1) exhibits a rich repertoire of neuronal activities to support
the generation of complex movements. Although recent neuronal-network models capture
many qualitative aspects of M1 dynamics, they can generate only a few distinct
movements. Additionally, it is unclear how M1 efficiently controls movements over
a wide range of shapes and speeds. We demonstrate that modulation of neuronal
input–output gains in recurrent neuronal-network models with a fixed architecture
can dramatically reorganize neuronal activity and thus downstream muscle outputs.
Consistent with the observation of diffuse neuromodulatory projections to M1,
a relatively small number of modulatory control units provide sufficient flexibility
to adjust high-dimensional network activity using a simple reward-based learning
rule. Furthermore, it is possible to assemble novel movements from previously
learned primitives, and one can separately change movement speed while preserving
movement shape. Our results provide a new perspective on the role of modulatory
systems in controlling recurrent cortical activity.
article_processing_charge: No
article_type: original
author:
- first_name: Jake P.
full_name: Stroud, Jake P.
last_name: Stroud
- first_name: Mason A.
full_name: Porter, Mason A.
last_name: Porter
- first_name: Guillaume
full_name: Hennequin, Guillaume
last_name: Hennequin
- first_name: Tim P
full_name: Vogels, Tim P
id: CB6FF8D2-008F-11EA-8E08-2637E6697425
last_name: Vogels
orcid: 0000-0003-3295-6181
citation:
ama: Stroud JP, Porter MA, Hennequin G, Vogels TP. Motor primitives in space and
time via targeted gain modulation in cortical networks. Nature Neuroscience.
2018;21(12):1774-1783. doi:10.1038/s41593-018-0276-0
apa: Stroud, J. P., Porter, M. A., Hennequin, G., & Vogels, T. P. (2018). Motor
primitives in space and time via targeted gain modulation in cortical networks.
Nature Neuroscience. Springer Nature. https://doi.org/10.1038/s41593-018-0276-0
chicago: Stroud, Jake P., Mason A. Porter, Guillaume Hennequin, and Tim P Vogels.
“Motor Primitives in Space and Time via Targeted Gain Modulation in Cortical Networks.”
Nature Neuroscience. Springer Nature, 2018. https://doi.org/10.1038/s41593-018-0276-0.
ieee: J. P. Stroud, M. A. Porter, G. Hennequin, and T. P. Vogels, “Motor primitives
in space and time via targeted gain modulation in cortical networks,” Nature
Neuroscience, vol. 21, no. 12. Springer Nature, pp. 1774–1783, 2018.
ista: Stroud JP, Porter MA, Hennequin G, Vogels TP. 2018. Motor primitives in space
and time via targeted gain modulation in cortical networks. Nature Neuroscience.
21(12), 1774–1783.
mla: Stroud, Jake P., et al. “Motor Primitives in Space and Time via Targeted Gain
Modulation in Cortical Networks.” Nature Neuroscience, vol. 21, no. 12,
Springer Nature, 2018, pp. 1774–83, doi:10.1038/s41593-018-0276-0.
short: J.P. Stroud, M.A. Porter, G. Hennequin, T.P. Vogels, Nature Neuroscience
21 (2018) 1774–1783.
date_created: 2020-06-30T13:18:02Z
date_published: 2018-12-01T00:00:00Z
date_updated: 2021-01-12T08:16:46Z
day: '01'
doi: 10.1038/s41593-018-0276-0
extern: '1'
external_id:
pmid:
- '30482949'
intvolume: ' 21'
issue: '12'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276991/
month: '12'
oa: 1
oa_version: Submitted Version
page: 1774-1783
pmid: 1
publication: Nature Neuroscience
publication_identifier:
issn:
- 1097-6256
- 1546-1726
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
related_material:
link:
- relation: erratum
url: https://doi.org/10.1038/s41593-018-0307-x
status: public
title: Motor primitives in space and time via targeted gain modulation in cortical
networks
type: journal_article
user_id: D865714E-FA4E-11E9-B85B-F5C5E5697425
volume: 21
year: '2018'
...
---
_id: '8231'
article_processing_charge: No
article_type: letter_note
author:
- first_name: Judit
full_name: Fazekas-Singer, Judit
id: 36432834-F248-11E8-B48F-1D18A9856A87
last_name: Fazekas-Singer
orcid: 0000-0002-8777-3502
- first_name: Josef
full_name: Singer, Josef
last_name: Singer
- first_name: Kristina M.
full_name: Ilieva, Kristina M.
last_name: Ilieva
- first_name: Miroslawa
full_name: Matz, Miroslawa
last_name: Matz
- first_name: Ina
full_name: Herrmann, Ina
last_name: Herrmann
- first_name: Edzard
full_name: Spillner, Edzard
last_name: Spillner
- first_name: Sophia N.
full_name: Karagiannis, Sophia N.
last_name: Karagiannis
- first_name: Erika
full_name: Jensen-Jarolim, Erika
last_name: Jensen-Jarolim
citation:
ama: 'Singer J, Singer J, Ilieva KM, et al. AllergoOncology: Generating a canine
anticancer IgE against the epidermal growth factor receptor. Journal of Allergy
and Clinical Immunology. 2018;142(3):973-976.e11. doi:10.1016/j.jaci.2018.04.021'
apa: 'Singer, J., Singer, J., Ilieva, K. M., Matz, M., Herrmann, I., Spillner, E.,
… Jensen-Jarolim, E. (2018). AllergoOncology: Generating a canine anticancer IgE
against the epidermal growth factor receptor. Journal of Allergy and Clinical
Immunology. Elsevier. https://doi.org/10.1016/j.jaci.2018.04.021'
chicago: 'Singer, Judit, Josef Singer, Kristina M. Ilieva, Miroslawa Matz, Ina Herrmann,
Edzard Spillner, Sophia N. Karagiannis, and Erika Jensen-Jarolim. “AllergoOncology:
Generating a Canine Anticancer IgE against the Epidermal Growth Factor Receptor.”
Journal of Allergy and Clinical Immunology. Elsevier, 2018. https://doi.org/10.1016/j.jaci.2018.04.021.'
ieee: 'J. Singer et al., “AllergoOncology: Generating a canine anticancer
IgE against the epidermal growth factor receptor,” Journal of Allergy and Clinical
Immunology, vol. 142, no. 3. Elsevier, p. 973–976.e11, 2018.'
ista: 'Singer J, Singer J, Ilieva KM, Matz M, Herrmann I, Spillner E, Karagiannis
SN, Jensen-Jarolim E. 2018. AllergoOncology: Generating a canine anticancer IgE
against the epidermal growth factor receptor. Journal of Allergy and Clinical
Immunology. 142(3), 973–976.e11.'
mla: 'Singer, Judit, et al. “AllergoOncology: Generating a Canine Anticancer IgE
against the Epidermal Growth Factor Receptor.” Journal of Allergy and Clinical
Immunology, vol. 142, no. 3, Elsevier, 2018, p. 973–976.e11, doi:10.1016/j.jaci.2018.04.021.'
short: J. Singer, J. Singer, K.M. Ilieva, M. Matz, I. Herrmann, E. Spillner, S.N.
Karagiannis, E. Jensen-Jarolim, Journal of Allergy and Clinical Immunology 142
(2018) 973–976.e11.
date_created: 2020-08-10T11:51:36Z
date_published: 2018-09-01T00:00:00Z
date_updated: 2021-01-12T08:17:37Z
day: '01'
doi: 10.1016/j.jaci.2018.04.021
extern: '1'
intvolume: ' 142'
issue: '3'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1016/j.jaci.2018.04.021
month: '09'
oa: 1
oa_version: Published Version
page: 973-976.e11
publication: Journal of Allergy and Clinical Immunology
publication_identifier:
issn:
- 0091-6749
publication_status: published
publisher: Elsevier
quality_controlled: '1'
status: public
title: 'AllergoOncology: Generating a canine anticancer IgE against the epidermal
growth factor receptor'
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 142
year: '2018'
...
---
_id: '8234'
abstract:
- lang: eng
text: Molecular imaging probes such as PET-tracers have the potential to improve
the accuracy of tumor characterization by directly visualizing the biochemical
situation. Thus, molecular changes can be detected early before morphological
manifestation. The A3 adenosine receptor (A3AR) is described to be highly expressed
in colon cancer cell lines and human colorectal cancer (CRC), suggesting this
receptor as a tumor marker. The aim of this preclinical study was the evaluation
of FE@SUPPY as a PET-tracer for CRC using in vitro imaging and in vivo PET imaging.
First, affinity and selectivity of FE@SUPPY and its metabolites were determined,
proving the favorable binding profile of FE@SUPPY. The human adenocarcinoma cell
line HT-29 was characterized regarding its hA3AR expression and was subsequently
chosen as tumor graft. Promising results regarding the potential of FE@SUPPY as
a PET-tracer for CRC imaging were obtained by autoradiography as ≥2.3-fold higher
accumulation of FE@SUPPY was found in CRC tissue compared to adjacent healthy
colon tissue from the same patient. Nevertheless, first in vivo studies using
HT-29 xenografts showed insufficient tumor uptake due to (1) poor conservation
of target expression in xenografts and (2) unfavorable pharmacokinetics of FE@SUPPY
in mice. We therefore conclude that HT-29 xenografts are not adequate to visualize
hA3ARs using FE@SUPPY.
article_number: '1269830'
article_processing_charge: No
article_type: original
author:
- first_name: T.
full_name: Balber, T.
last_name: Balber
- first_name: Judit
full_name: Singer, Judit
id: 36432834-F248-11E8-B48F-1D18A9856A87
last_name: Singer
orcid: 0000-0002-8777-3502
- first_name: N.
full_name: Berroterán-Infante, N.
last_name: Berroterán-Infante
- first_name: M.
full_name: Dumanic, M.
last_name: Dumanic
- first_name: L.
full_name: Fetty, L.
last_name: Fetty
- first_name: J.
full_name: Fazekas-Singer, J.
last_name: Fazekas-Singer
orcid: 0000-0002-8777-3502
- first_name: C.
full_name: Vraka, C.
last_name: Vraka
- first_name: L.
full_name: Nics, L.
last_name: Nics
- first_name: M.
full_name: Bergmann, M.
last_name: Bergmann
- first_name: K.
full_name: Pallitsch, K.
last_name: Pallitsch
- first_name: H.
full_name: Spreitzer, H.
last_name: Spreitzer
- first_name: W.
full_name: Wadsak, W.
last_name: Wadsak
orcid: 0000-0003-4479-8053
- first_name: M.
full_name: Hacker, M.
last_name: Hacker
- first_name: E.
full_name: Jensen-Jarolim, E.
last_name: Jensen-Jarolim
- first_name: H.
full_name: Viernstein, H.
last_name: Viernstein
- first_name: M.
full_name: Mitterhauser, M.
last_name: Mitterhauser
orcid: 0000-0003-3173-5272
citation:
ama: 'Balber T, Singer J, Berroterán-Infante N, et al. Preclinical in vitro and
in vivo evaluation of [18F]FE@SUPPY for cancer PET imaging: Limitations of a xenograft
model for colorectal cancer. Contrast Media & Molecular Imaging. 2018;2018.
doi:10.1155/2018/1269830'
apa: 'Balber, T., Singer, J., Berroterán-Infante, N., Dumanic, M., Fetty, L., Fazekas-Singer,
J., … Mitterhauser, M. (2018). Preclinical in vitro and in vivo evaluation of
[18F]FE@SUPPY for cancer PET imaging: Limitations of a xenograft model for colorectal
cancer. Contrast Media & Molecular Imaging. Hindawi. https://doi.org/10.1155/2018/1269830'
chicago: 'Balber, T., Judit Singer, N. Berroterán-Infante, M. Dumanic, L. Fetty,
J. Fazekas-Singer, C. Vraka, et al. “Preclinical in Vitro and in Vivo Evaluation
of [18F]FE@SUPPY for Cancer PET Imaging: Limitations of a Xenograft Model for
Colorectal Cancer.” Contrast Media & Molecular Imaging. Hindawi, 2018.
https://doi.org/10.1155/2018/1269830.'
ieee: 'T. Balber et al., “Preclinical in vitro and in vivo evaluation of
[18F]FE@SUPPY for cancer PET imaging: Limitations of a xenograft model for colorectal
cancer,” Contrast Media & Molecular Imaging, vol. 2018. Hindawi, 2018.'
ista: 'Balber T, Singer J, Berroterán-Infante N, Dumanic M, Fetty L, Fazekas-Singer
J, Vraka C, Nics L, Bergmann M, Pallitsch K, Spreitzer H, Wadsak W, Hacker M,
Jensen-Jarolim E, Viernstein H, Mitterhauser M. 2018. Preclinical in vitro and
in vivo evaluation of [18F]FE@SUPPY for cancer PET imaging: Limitations of a xenograft
model for colorectal cancer. Contrast Media & Molecular Imaging. 2018, 1269830.'
mla: 'Balber, T., et al. “Preclinical in Vitro and in Vivo Evaluation of [18F]FE@SUPPY
for Cancer PET Imaging: Limitations of a Xenograft Model for Colorectal Cancer.”
Contrast Media & Molecular Imaging, vol. 2018, 1269830, Hindawi, 2018,
doi:10.1155/2018/1269830.'
short: T. Balber, J. Singer, N. Berroterán-Infante, M. Dumanic, L. Fetty, J. Fazekas-Singer,
C. Vraka, L. Nics, M. Bergmann, K. Pallitsch, H. Spreitzer, W. Wadsak, M. Hacker,
E. Jensen-Jarolim, H. Viernstein, M. Mitterhauser, Contrast Media & Molecular
Imaging 2018 (2018).
date_created: 2020-08-10T11:53:07Z
date_published: 2018-02-13T00:00:00Z
date_updated: 2021-01-12T08:17:38Z
day: '13'
doi: 10.1155/2018/1269830
extern: '1'
intvolume: ' 2018'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1155/2018/1269830
month: '02'
oa: 1
oa_version: Published Version
publication: Contrast Media & Molecular Imaging
publication_identifier:
issn:
- 1555-4309
- 1555-4317
publication_status: published
publisher: Hindawi
quality_controlled: '1'
status: public
title: 'Preclinical in vitro and in vivo evaluation of [18F]FE@SUPPY for cancer PET
imaging: Limitations of a xenograft model for colorectal cancer'
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 2018
year: '2018'
...
---
_id: '8232'
abstract:
- lang: eng
text: 'Anti-epidermal growth factor receptor (EGFR) antibody therapy is used in
EGFR expressing cancers including lung, colon, head and neck, and bladder cancers,
however results have been modest. Near infrared photoimmunotherapy (NIR-PIT) is
a highly selective tumor treatment that employs an antibody-photo-absorber conjugate
which is activated by NIR light. NIR-PIT is in clinical trials in patients with
recurrent head and neck cancers using cetuximab-IR700 as the conjugate. However,
its use has otherwise been restricted to mouse models. This is an effort to explore
larger animal models with NIR-PIT. We describe the use of a recombinant canine
anti-EGFR monoclonal antibody (mAb), can225IgG, conjugated to the photo-absorber,
IR700DX, in three EGFR expressing canine transitional cell carcinoma (TCC) cell
lines as a prelude to possible canine clinical studies. Can225-IR700 conjugate
showed specific binding and cell-specific killing after NIR-PIT on EGFR expressing
cells in vitro. In the in vivo study, can225-IR700 conjugate demonstrated accumulation
of the fluorescent conjugate with high tumor-to-background ratio. Tumor-bearing
mice were separated into 4 groups: (1) no treatment; (2) 100 μg of can225-IR700
i.v. only; (3) NIR light exposure only; (4) 100 μg of can225-IR700 i.v., NIR light
exposure. Tumor growth was significantly inhibited by NIR-PIT treatment compared
with the other groups (p < 0.001), and significantly prolonged survival was achieved
(p < 0.001 vs. other groups) in the treatment groups. In conclusion, NIR-PIT with
can225-IR700 is a promising treatment for canine EGFR-expressing cancers, including
invasive transitional cell carcinoma in pet dogs, that could provide a pathway
to translation to humans.'
article_processing_charge: No
article_type: original
author:
- first_name: Tadanobu
full_name: Nagaya, Tadanobu
last_name: Nagaya
- first_name: Shuhei
full_name: Okuyama, Shuhei
last_name: Okuyama
- first_name: Fusa
full_name: Ogata, Fusa
last_name: Ogata
- first_name: Yasuhiro
full_name: Maruoka, Yasuhiro
last_name: Maruoka
- first_name: Deborah W.
full_name: Knapp, Deborah W.
last_name: Knapp
- first_name: Sophia N.
full_name: Karagiannis, Sophia N.
last_name: Karagiannis
- first_name: Judit
full_name: Fazekas-Singer, Judit
id: 36432834-F248-11E8-B48F-1D18A9856A87
last_name: Fazekas-Singer
orcid: 0000-0002-8777-3502
- first_name: Peter L.
full_name: Choyke, Peter L.
last_name: Choyke
- first_name: Amy K.
full_name: LeBlanc, Amy K.
last_name: LeBlanc
- first_name: Erika
full_name: Jensen-Jarolim, Erika
last_name: Jensen-Jarolim
- first_name: Hisataka
full_name: Kobayashi, Hisataka
last_name: Kobayashi
citation:
ama: Nagaya T, Okuyama S, Ogata F, et al. Near infrared photoimmunotherapy targeting
bladder cancer with a canine anti-epidermal growth factor receptor (EGFR) antibody.
Oncotarget. 2018;9:19026-19038. doi:10.18632/oncotarget.24876
apa: Nagaya, T., Okuyama, S., Ogata, F., Maruoka, Y., Knapp, D. W., Karagiannis,
S. N., … Kobayashi, H. (2018). Near infrared photoimmunotherapy targeting bladder
cancer with a canine anti-epidermal growth factor receptor (EGFR) antibody. Oncotarget.
Impact Journals. https://doi.org/10.18632/oncotarget.24876
chicago: Nagaya, Tadanobu, Shuhei Okuyama, Fusa Ogata, Yasuhiro Maruoka, Deborah
W. Knapp, Sophia N. Karagiannis, Judit Singer, et al. “Near Infrared Photoimmunotherapy
Targeting Bladder Cancer with a Canine Anti-Epidermal Growth Factor Receptor (EGFR)
Antibody.” Oncotarget. Impact Journals, 2018. https://doi.org/10.18632/oncotarget.24876.
ieee: T. Nagaya et al., “Near infrared photoimmunotherapy targeting bladder
cancer with a canine anti-epidermal growth factor receptor (EGFR) antibody,” Oncotarget,
vol. 9. Impact Journals, pp. 19026–19038, 2018.
ista: Nagaya T, Okuyama S, Ogata F, Maruoka Y, Knapp DW, Karagiannis SN, Singer
J, Choyke PL, LeBlanc AK, Jensen-Jarolim E, Kobayashi H. 2018. Near infrared photoimmunotherapy
targeting bladder cancer with a canine anti-epidermal growth factor receptor (EGFR)
antibody. Oncotarget. 9, 19026–19038.
mla: Nagaya, Tadanobu, et al. “Near Infrared Photoimmunotherapy Targeting Bladder
Cancer with a Canine Anti-Epidermal Growth Factor Receptor (EGFR) Antibody.” Oncotarget,
vol. 9, Impact Journals, 2018, pp. 19026–38, doi:10.18632/oncotarget.24876.
short: T. Nagaya, S. Okuyama, F. Ogata, Y. Maruoka, D.W. Knapp, S.N. Karagiannis,
J. Singer, P.L. Choyke, A.K. LeBlanc, E. Jensen-Jarolim, H. Kobayashi, Oncotarget
9 (2018) 19026–19038.
date_created: 2020-08-10T11:52:54Z
date_published: 2018-04-10T00:00:00Z
date_updated: 2021-01-12T08:17:37Z
day: '10'
doi: 10.18632/oncotarget.24876
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.18632/oncotarget.24876
month: '04'
oa: 1
oa_version: Published Version
page: 19026-19038
publication: Oncotarget
publication_identifier:
eissn:
- 1949-2553
publication_status: published
publisher: Impact Journals
quality_controlled: '1'
status: public
title: Near infrared photoimmunotherapy targeting bladder cancer with a canine anti-epidermal
growth factor receptor (EGFR) antibody
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '8233'
abstract:
- lang: eng
text: The M2a subtype of macrophages plays an important role in human immunoglobulin
E (IgE-mediated allergies) and other Th2 type immune reactions. In contrast, very
little is known about these cells in the dog. Here we describe an in vitro method
to activate canine histiocytic DH82 cells and primary canine monocyte-derived
macrophages (MDMs) toward the M2a macrophages using human cytokines. For a side-by-side
comparison, we compared the canine cells to human MDMs, and the human monocytic
cell line U937 activated towards M1 and M2a cells on the cellular and molecular
level. In analogy to activated human M2a cells, canine M2a, differentiated from
both DH82 and MDMs, showed an increase in CD206 surface receptor expression compared
to M1. Interestingly, canine M2a, but not M1 derived from MDM, upregulated the
high-affinity IgE receptor (FcεRI). Transcription levels of M2a-associated genes
(IL10, CCL22, TGFβ, CD163) showed a diverse pattern between the human and dog
species, whereas M1 genes (IDO1, CXCL11, IL6, TNF-α) were similarly upregulated
in canine and human M1 cells (cell lines and MDMs). We suggest that our novel
in vitro method will be suitable in comparative allergology studies focussing
on macrophages.
article_processing_charge: No
article_type: original
author:
- first_name: Ina
full_name: Herrmann, Ina
last_name: Herrmann
- first_name: Jelena
full_name: Gotovina, Jelena
last_name: Gotovina
- first_name: Judit
full_name: Fazekas-Singer, Judit
id: 36432834-F248-11E8-B48F-1D18A9856A87
last_name: Fazekas-Singer
orcid: 0000-0002-8777-3502
- first_name: Michael B.
full_name: Fischer, Michael B.
last_name: Fischer
- first_name: Karin
full_name: Hufnagl, Karin
last_name: Hufnagl
- first_name: Rodolfo
full_name: Bianchini, Rodolfo
last_name: Bianchini
- first_name: Erika
full_name: Jensen-Jarolim, Erika
last_name: Jensen-Jarolim
citation:
ama: Herrmann I, Gotovina J, Singer J, et al. Canine macrophages can like human
macrophages be in vitro activated toward the M2a subtype relevant in allergy.
Developmental & Comparative Immunology. 2018;82(5):118-127. doi:10.1016/j.dci.2018.01.005
apa: Herrmann, I., Gotovina, J., Singer, J., Fischer, M. B., Hufnagl, K., Bianchini,
R., & Jensen-Jarolim, E. (2018). Canine macrophages can like human macrophages
be in vitro activated toward the M2a subtype relevant in allergy. Developmental
& Comparative Immunology. Elsevier. https://doi.org/10.1016/j.dci.2018.01.005
chicago: Herrmann, Ina, Jelena Gotovina, Judit Singer, Michael B. Fischer, Karin
Hufnagl, Rodolfo Bianchini, and Erika Jensen-Jarolim. “Canine Macrophages Can
like Human Macrophages Be in Vitro Activated toward the M2a Subtype Relevant in
Allergy.” Developmental & Comparative Immunology. Elsevier, 2018. https://doi.org/10.1016/j.dci.2018.01.005.
ieee: I. Herrmann et al., “Canine macrophages can like human macrophages
be in vitro activated toward the M2a subtype relevant in allergy,” Developmental
& Comparative Immunology, vol. 82, no. 5. Elsevier, pp. 118–127, 2018.
ista: Herrmann I, Gotovina J, Singer J, Fischer MB, Hufnagl K, Bianchini R, Jensen-Jarolim
E. 2018. Canine macrophages can like human macrophages be in vitro activated toward
the M2a subtype relevant in allergy. Developmental & Comparative Immunology.
82(5), 118–127.
mla: Herrmann, Ina, et al. “Canine Macrophages Can like Human Macrophages Be in Vitro
Activated toward the M2a Subtype Relevant in Allergy.” Developmental &
Comparative Immunology, vol. 82, no. 5, Elsevier, 2018, pp. 118–27, doi:10.1016/j.dci.2018.01.005.
short: I. Herrmann, J. Gotovina, J. Singer, M.B. Fischer, K. Hufnagl, R. Bianchini,
E. Jensen-Jarolim, Developmental & Comparative Immunology 82 (2018) 118–127.
date_created: 2020-08-10T11:53:01Z
date_published: 2018-05-01T00:00:00Z
date_updated: 2021-01-12T08:17:38Z
day: '01'
doi: 10.1016/j.dci.2018.01.005
extern: '1'
intvolume: ' 82'
issue: '5'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1016/j.dci.2018.01.005
month: '05'
oa: 1
oa_version: Published Version
page: 118-127
publication: Developmental & Comparative Immunology
publication_identifier:
issn:
- 0145-305X
publication_status: published
publisher: Elsevier
quality_controlled: '1'
status: public
title: Canine macrophages can like human macrophages be in vitro activated toward
the M2a subtype relevant in allergy
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 82
year: '2018'
...