Article
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Nature communications - 29 Oct 2022
Chan Ada J S, Engchuan Worrawat, Reuter Miriam S, Wang Zhuozhi, Thiruvahindrapuram Bhooma, Trost Brett, Nalpathamkalam Thomas, Negrijn Carol, Lamoureux Sylvia, Pellecchia Giovanna, Patel Rohan V, Sung Wilson W L, MacDonald Jeffrey R, Howe Jennifer L, Vorstman Jacob, Sondheimer Neal, Takahashi Nicole, Miles Judith H, Anagnostou Evdokia, Tammimies Kristiina, Zarrei Mehdi, Merico Daniele, Stavropoulos Dimitri J, Yuen Ryan K C, Fernandez Bridget A, Scherer Stephen W
Abstract excerpt
Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the prediction of developmental outcomes. Based on minor physical and major congenital anomalies, we categorize 325 Canadian children with ASD into dysmorphic and nondysmorphic subgroups. We develop a method for calculating a patient-level, genome-wide rare variant score (GRVS) from whole-genome sequencing (WGS) data. GRVS is a sum...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.