N Zhu, MW Pauciulo, CL Welch, KA Lutz… - Genome medicine, 2019 - Springer
… To identify new riskgenes, we performed exomesequencing in a large cohort from the … We then carried out rare deleterious variant identification followed by case-control gene-based …
T Klassen, C Davis, A Goldman, D Burgess, T Chen… - Cell, 2011 - cell.com
… parallel exomesequencing of 237 channel genes in … genes is prevalent in both groups at similar complexity, revealing that even deleterious ion channel mutations confer uncertain risk …
… We report the exomesequencing and genotyping results of 1379 individuals in 457 families with at least one offspring affected with ASD, including 418 simplex and 39 multiplex …
MR Chandler, EP Bilgili, ND Merner - Human mutation, 2016 - Wiley Online Library
… BC risk variants, and this manuscript reviews 12 familial BC whole-exomesequencing efforts. … a modest number of novel BC riskgenes were identified, and 90% and 97% of the exome-…
MJ Bamshad, SB Ng, AW Bigham, HK Tabor… - Nature Reviews …, 2011 - nature.com
… research and whether and how this information differs from standard information about the risks and benefits of genetic research. In many cases, the answers are complex and …
… exomesequencing studies to date, we identify genes in which disruptive coding variants confer substantial risk for schizophrenia at exome-… a decade of sequence data, harmonization of …
… exomesequence data generation We combined BD case–control whole-exomesequencing … However, this is the first time that exomesequencing and joint analysis has been performed …
AB Singleton - The Lancet Neurology, 2011 - thelancet.com
… , exomesequencing makes identification of genetic mutations and risk factors possible in families and samples that were deemed insufficiently informative for previous genetic studies. …
… sequencing, it is now possible to assess this hypothesis at the scale of all 20,000 human genes by whole-exomesequencing (… collapsed at the gene-level or even gene networks. These …