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

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 inad...

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Detalles Bibliográficos
Autores principales: Han, Xinwei, Chen, Siying, Flynn, Elise, Wu, Shuang, Wintner, Dana, Shen, Yufeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976622/
https://www.ncbi.nlm.nih.gov/pubmed/29849042
http://dx.doi.org/10.1038/s41467-018-04552-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976622/
https://www.ncbi.nlm.nih.gov/pubmed/29849042
http://dx.doi.org/10.1038/s41467-018-04552-7

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