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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Nat Genet |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
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| Θέματα: | |
| Διαθέσιμο Online: | 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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