Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders
Xinwei Han, Siying Chen, Elise Flynn and 3 more
Nature Communications · 2018
doi:10.1038/s41467-018-04552-7 (opens in a new tab)
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Abstract
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.
Abstract licence: CC BY-NC-ND
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