Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02356-2
Abstract: Whole-exome and whole-genome sequencing studies in autism spectrum disorder (ASD) have identified hundreds of thousands of exonic variants. Only a handful of them, primarily loss-of-function variants, have been shown to increase the risk for ASD,… read more here.
Keywords: novo autism; risk; gene variant; autism risk ... See more keywords