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Ultra-rare variants drive substantial cis-heritability of human gene expression
The vast majority of human mutations have minor allele frequencies (MAF) under 1%, with the plurality observed only once (i.e., “singletons”). While Mendelian diseases are predominantly caused by rare alleles, their cumulative contribution to complex phenotypes remains largely unknown. We develop an...
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| Publicado no: | Nat Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6730564/ https://ncbi.nlm.nih.gov/pubmed/31477931 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-019-0487-7 |
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