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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Auteurs principaux: Xinwei Han, Siying Chen, Elise Flynn, Shuang Wu, Dana Wintner, Yufeng Shen
Format: article
Langue:EN
Publié: Nature Portfolio 2018
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Accès en ligne:https://doaj.org/article/a278745b868046bf894ecf55169d53da
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