Rare coding variants pinpoint genes that control human hematological traits.

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) <1%) coding or splice site variants and 15 hematological traits in up to 30...

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Bibliographic Details
Main Authors: Abdou Mousas, Georgios Ntritsos, Ming-Huei Chen, Ci Song, Jennifer E Huffman, Ioanna Tzoulaki, Paul Elliott, Bruce M Psaty, Blood-Cell Consortium, Paul L Auer, Andrew D Johnson, Evangelos Evangelou, Guillaume Lettre, Alexander P Reiner
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-08-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5560754?pdf=render