Article

Challenges in screening for <i>de novo</i> noncoding variants contributing to genetically complex phenotypes

2022-11-05

Abstract excerpt

Understanding the genetic basis for complex, heterogeneous disorders, such as autism spectrum disorder (ASD), is a persistent challenge in human medicine. Owing to their phenotypic complexity, the genetic mechanisms underlying these disorders may be highly variable across individual patients. Furthermore, much of their heritability is unexplained by known regulatory or coding variants. Indeed, there is evidence th...

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Literature Corpus work: f4e5d82d-0624-5ac9-a69a-8e64009d6bb2
DOI: 10.1101/2022.11.05.515231

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