학술논문

Rare coding variants pinpoint genes that control human hematological traits.
Document Type
article
Source
PLoS Genetics, Vol 13, Iss 8, p e1006925 (2017)
Subject
Genetics
QH426-470
Language
English
ISSN
1553-7390
1553-7404
Abstract
The identification of rare coding or splice site variants remains the most straightforward strategy to link genes with human phenotypes. Here, we analyzed the association between 137,086 rare (minor allele frequency (MAF)