Article

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

2021-10-26

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 categorized 325 Canadian children with ASD into dysmorphic and nondysmorphic subgroups. We developed a method for calculating a patient-level, genome-wide rare variant score (GRVS) from whole-genome sequencing (WGS) data. GRVS is a sum...

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Literature Corpus work: ce495597-499a-54a0-bd26-f98b3ea59719
DOI: 10.1101/2021.10.20.21264950

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