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Article

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

Nature communications - 30 May 2018

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

Abstract excerpt

Haploinsufficiency is a major mechanism of genetic risk in developmental disorders. Accurate prediction of haploinsufficient genes is essential for prioritizing and interpreting deleterious variants in genetic studies. Current methods based on mutation intolerance in population data suffer from inadequate power for genes with short transcripts. Here we show haploinsufficiency is strongly associated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29849042
DOI: 10.1038/s41467-018-04552-7
PMCID: PMC5976622

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