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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560754/
https://www.ncbi.nlm.nih.gov/pubmed/28787443
http://dx.doi.org/10.1371/journal.pgen.1006925