--- res: bibo_abstract: - Unbiased high-throughput massively parallel sequencing methods have transformed the process of discovery of novel putative driver gene mutations in cancer. In chronic lymphocytic leukemia (CLL), these methods have yielded several unexpected findings, including the driver genes SF3B1, NOTCH1 and POT1. Recent analysis, utilizing down-sampling of existing datasets, has shown that the discovery process of putative drivers is far from complete across cancer. In CLL, while driver gene mutations affecting >10% of patients were efficiently discovered with previously published CLL cohorts of up to 160 samples subjected to whole exome sequencing (WES), this sample size has only 0.78 power to detect drivers affecting 5% of patients, and only 0.12 power for drivers affecting 2% of patients. These calculations emphasize the need to apply unbiased WES to larger patient cohorts.@eng bibo_authorlist: - foaf_Person: foaf_givenName: Dan foaf_name: Landau, Dan foaf_surname: Landau - foaf_Person: foaf_givenName: Chip foaf_name: Stewart, Chip foaf_surname: Stewart - foaf_Person: foaf_givenName: Johannes foaf_name: Reiter, Johannes foaf_surname: Reiter foaf_workInfoHomepage: http://www.librecat.org/personId=4A918E98-F248-11E8-B48F-1D18A9856A87 orcid: 0000-0002-0170-7353 - foaf_Person: foaf_givenName: Michael foaf_name: Lawrence, Michael foaf_surname: Lawrence - foaf_Person: foaf_givenName: Carrie foaf_name: Sougnez, Carrie foaf_surname: Sougnez - foaf_Person: foaf_givenName: Jennifer foaf_name: Brown, Jennifer foaf_surname: Brown - foaf_Person: foaf_givenName: Armando foaf_name: Lopez Guillermo, Armando foaf_surname: Lopez Guillermo - foaf_Person: foaf_givenName: Stacey foaf_name: Gabriel, Stacey foaf_surname: Gabriel - foaf_Person: foaf_givenName: Eric foaf_name: Lander, Eric foaf_surname: Lander - foaf_Person: foaf_givenName: Donna foaf_name: Neuberg, Donna foaf_surname: Neuberg - foaf_Person: foaf_givenName: Carlos foaf_name: López Otín, Carlos foaf_surname: López Otín - foaf_Person: foaf_givenName: Elias foaf_name: Campo, Elias foaf_surname: Campo - foaf_Person: foaf_givenName: Gad foaf_name: Getz, Gad foaf_surname: Getz - foaf_Person: foaf_givenName: Catherine foaf_name: Wu, Catherine foaf_surname: Wu bibo_issue: '21' bibo_volume: 124 dct_date: 2014^xs_gYear dct_language: eng dct_publisher: American Society of Hematology@ dct_title: 'Novel putative driver gene mutations in chronic lymphocytic leukemia (CLL): results from a combined analysis of whole exome sequencing of 262 primary CLL aamples@' ...