Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

…, J Miller, A Gkazi, FALS Sequencing Consortium… - Science, 2015 - science.org
… -scale sequencing study aimed at increasing the number of genes … We performed whole-exome
sequencing of 2869 ALS … ALS genes were found to be associated, and TBK1 (the gene

[HTML][HTML] Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

N Zhu, MW Pauciulo, CL Welch, KA Lutz… - Genome medicine, 2019 - Springer
… To identify new risk genes, we performed exome sequencing in a large cohort from the …
We then carried out rare deleterious variant identification followed by case-control gene-based …

[HTML][HTML] Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

T Klassen, C Davis, A Goldman, D Burgess, T Chen… - Cell, 2011 - cell.com
… parallel exome sequencing of 237 channel genes in … genes is prevalent in both groups at
similar complexity, revealing that even deleterious ion channel mutations confer uncertain risk

[HTML][HTML] Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

P Feliciano, X Zhou, I Astrovskaya, TN Turner… - NPJ genomic …, 2019 - nature.com
… We report the exome sequencing and genotyping results of 1379 individuals in 457
families with at least one offspring affected with ASD, including 418 simplex and 39 multiplex …

A review of whole‐exome sequencing efforts toward hereditary breast cancer susceptibility gene discovery

MR Chandler, EP Bilgili, ND Merner - Human mutation, 2016 - Wiley Online Library
… BC risk variants, and this manuscript reviews 12 familial BC whole-exome sequencing efforts.
… a modest number of novel BC risk genes were identified, and 90% and 97% of the exome-…

Exome sequencing as a tool for Mendelian disease gene discovery

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 …

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

T Singh, BM Neale, MJ Daly - MedRxiv, 2020 - medrxiv.org
exome sequencing 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 …

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

DS Palmer, DP Howrigan, SB Chapman, R Adolfsson… - Nature …, 2022 - nature.com
exome sequence data generation We combined BD case–control whole-exome sequencing
… However, this is the first time that exome sequencing and joint analysis has been performed …

Exome sequencing: a transformative technology

AB Singleton - The Lancet Neurology, 2011 - thelancet.com
… , exome sequencing makes identification of genetic mutations and risk factors possible in
families and samples that were deemed insufficiently informative for previous genetic studies. …

[HTML][HTML] Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

T Husson, JB Duboc, O Quenez, C Charbonnier… - Translational …, 2018 - nature.com
sequencing, it is now possible to assess this hypothesis at the scale of all 20,000 human genes
by whole-exome sequencing (… collapsed at the gene-level or even gene networks. These …