Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes

Summary: 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 patient...

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Bibliographic Details
Main Authors: Christopher P. Castro, Adam G. Diehl, Alan P. Boyle
Format: Article
Language:English
Published: Elsevier 2023-07-01
Series:HGG Advances
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000428

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