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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Autores principales: Xinwei Han, Siying Chen, Elise Flynn, Shuang Wu, Dana Wintner, Yufeng Shen
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/a278745b868046bf894ecf55169d53da
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spelling 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)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle 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
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