Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders

Predicting haploinsufficient genes helps to understand the genetic risk underlying developmental disorders. Here, the authors develop a Random Forest-based method that uses epigenomic data to predict haploinsufficiency, Episcore, which is complementary to methods based on mutation intolerance scores...

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Bibliographic Details
Main Authors: Xinwei Han, Siying Chen, Elise Flynn, Shuang Wu, Dana Wintner, Yufeng Shen
Format: Article
Language:English
Published: Nature Publishing Group 2018-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-018-04552-7