Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.
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ABSTRACT:
SUBMITTER: Weiner DJ
PROVIDER: S-EPMC9649437 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Publications
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.
Weiner Daniel J DJ Ling Emi E Erdin Serkan S Tai Derek J C DJC Yadav Rachita R Grove Jakob J Fu Jack M JM Nadig Ajay A Carey Caitlin E CE Baya Nikolas N Bybjerg-Grauholm Jonas J Berretta Sabina S Macosko Evan Z EZ Sebat Jonathan J O'Connor Luke J LJ Hougaard David M DM Børglum Anders D AD Talkowski Michael E ME McCarroll Steven A SA Robinson Elise B EB
Nature genetics 20221024 11
The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the genetic influences on autism. Using a new statistical approach, we identified the 33-Mb p-arm of chromosome 16 (16p) as harboring the greatest excess of ...[more]
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