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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| 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 |