Article

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

2018-04-25

Abstract excerpt

<h4>SUMMARY</h4> To discover novel genetic risk factors underlying amyotrophic lateral sclerosis (ALS), we aggregated exomes from 3,864 cases and 7,839 ancestry matched controls. We observed a significant excess of ultra-rare and rare protein-truncating variants (PTV) among ALS cases, which was primarily concentrated in constrained genes; however, a significant enrichment in PTVs does persist in the remaining exo...

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Literature Corpus work: 139d6344-636c-524e-ab72-c47a05a3efb9
DOI: 10.1101/307835

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