Article
Rare coding variants pinpoint genes that control human hematological traits.
PLoS genetics - 1 Aug 2017
Mousas Abdou, Ntritsos Georgios, Chen Ming-Huei, Song Ci, Huffman Jennifer E, Tzoulaki Ioanna, Elliott Paul, Psaty Bruce M, Auer Paul L, Johnson Andrew D, Evangelou Evangelos, Lettre Guillaume, Reiner Alexander P
Abstract excerpt
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 308,572 participants. We found 56 such rare coding or splice site variants at P<5x10-8, including 31 that are associated...
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