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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Detalles Bibliográficos
Autores principales: Hernandez, Ryan D., Uricchio, Lawrence H., Hartman, Kevin, Ye, Chun, Dahl, Andrew, Zaitlen, Noah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730564/
https://www.ncbi.nlm.nih.gov/pubmed/31477931
http://dx.doi.org/10.1038/s41588-019-0487-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730564/
https://www.ncbi.nlm.nih.gov/pubmed/31477931
http://dx.doi.org/10.1038/s41588-019-0487-7

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