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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Nature Portfolio
2018
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oai:doaj.org-article:a278745b868046bf894ecf55169d53da2021-12-02T17:33:06ZDistinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders10.1038/s41467-018-04552-72041-1723https://doaj.org/article/a278745b868046bf894ecf55169d53da2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-04552-7https://doaj.org/toc/2041-1723Predicting 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.Xinwei HanSiying ChenElise FlynnShuang WuDana WintnerYufeng ShenNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-9 (2018) |
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Science Q Xinwei Han Siying Chen Elise Flynn Shuang Wu Dana Wintner Yufeng Shen Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders |
description |
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. |
format |
article |
author |
Xinwei Han Siying Chen Elise Flynn Shuang Wu Dana Wintner Yufeng Shen |
author_facet |
Xinwei Han Siying Chen Elise Flynn Shuang Wu Dana Wintner Yufeng Shen |
author_sort |
Xinwei Han |
title |
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders |
title_short |
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders |
title_full |
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders |
title_fullStr |
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders |
title_full_unstemmed |
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders |
title_sort |
distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders |
publisher |
Nature Portfolio |
publishDate |
2018 |
url |
https://doaj.org/article/a278745b868046bf894ecf55169d53da |
work_keys_str_mv |
AT xinweihan distinctepigenomicpatternsareassociatedwithhaploinsufficiencyandpredictriskgenesofdevelopmentaldisorders AT siyingchen distinctepigenomicpatternsareassociatedwithhaploinsufficiencyandpredictriskgenesofdevelopmentaldisorders AT eliseflynn distinctepigenomicpatternsareassociatedwithhaploinsufficiencyandpredictriskgenesofdevelopmentaldisorders AT shuangwu distinctepigenomicpatternsareassociatedwithhaploinsufficiencyandpredictriskgenesofdevelopmentaldisorders AT danawintner distinctepigenomicpatternsareassociatedwithhaploinsufficiencyandpredictriskgenesofdevelopmentaldisorders AT yufengshen distinctepigenomicpatternsareassociatedwithhaploinsufficiencyandpredictriskgenesofdevelopmentaldisorders |
_version_ |
1718380079390654464 |