Nature Communications (May 2018)

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

  • Xinwei Han,
  • Siying Chen,
  • Elise Flynn,
  • Shuang Wu,
  • Dana Wintner,
  • Yufeng Shen

DOI
https://doi.org/10.1038/s41467-018-04552-7
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 9

Abstract

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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.