Article
Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Nature genetics - 1 Aug 2021
Wilfert Amy B, Turner Tychele N, Murali Shwetha C, Hsieh PingHsun, Sulovari Arvis, Wang Tianyun, Coe Bradley P, Guo Hui, Hoekzema Kendra, Bakken Trygve E, Winterkorn Lara H, Evani Uday S, Byrska-Bishop Marta, Earl Rachel K, Bernier Raphael A, Zody Michael C, Eichler Evan E
Abstract excerpt
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data from 3,474 families, we investigate another source of large-effect risk variation, ultra-rare variants. We report and replicate a transmission disequilibrium of private, likely gene-disruptive (LGD) variants in probands but find that 95% of this burden...
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