Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Tomasz GambinQian LiuJustyna A KarolakChristopher M GrochowskiNina G XieLucia R WuYan Helen YanYe CaoZeynep H Coban AkdemirTheresa A WilsonShalini N JhangianiEd ChenChristine M EngDonna MuznyJennifer E PoseyYaping YangDavid Y ZhangChad ShawPengfei LiuJames R LupskiPrzemyslaw SzafranskiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our computational pipeline enables robust discrimination between true and false positive candidate mosaic variants and efficient detection of low-level mosaicism in ES samples. We confirm that the presence of two or more alternate reads in the parental sample is a reliable predictor of low-level parental somatic mosaicism.