Statistical methods for assessing the effects of de novo variants on birth defects

Abstract With the development of next-generation sequencing technology, de novo variants (DNVs) with deleterious effects can be identified and investigated for their effects on birth defects such as congenital heart disease (CHD). However, statistical power is still limited for such studies because...

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Bibliographic Details
Main Authors: Yuhan Xie, Ruoxuan Wu, Hongyu Li, Weilai Dong, Geyu Zhou, Hongyu Zhao
Format: Article
Language:English
Published: BMC 2024-03-01
Series:Human Genomics
Subjects:
Online Access:https://doi.org/10.1186/s40246-024-00590-z