Article
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Nature neuroscience - 1 Dec 2019
Farhan Sali M K, Howrigan Daniel P, Abbott Liam E, Klim Joseph R, Topp Simon D, Byrnes Andrea E, Churchhouse Claire, Phatnani Hemali, Smith Bradley N, Rampersaud Evadnie, Wu Gang, Wuu Joanne, Shatunov Aleksey, Iacoangeli Alfredo, Al Khleifat Ahmad, Mordes Daniel A, Ghosh Sulagna, Eggan Kevin, Rademakers Rosa, McCauley Jacob L, Schüle Rebecca, Züchner Stephan, Benatar Michael, Taylor J Paul, Nalls Michael, Gotkine Marc, Shaw Pamela J, Morrison Karen E, Al-Chalabi Ammar, Traynor Bryan, Shaw Christopher E, Goldstein David B, Harms Matthew B, Daly Mark J, Neale Benjamin M
Abstract excerpt
To discover novel genes underlying amyotrophic lateral sclerosis (ALS), we aggregated exomes from 3,864 cases and 7,839 ancestry-matched controls. We observed a significant excess of rare protein-truncating variants among ALS cases, and these variants were concentrated in constrained genes. Through gene level analyses, we replicated known ALS genes including SOD1, NEK1 and FUS. We also observed multiple distinct...
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