Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.

doi:10.1371/journal.pone.0104396

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Article

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.

PloS one - 1 Jan 2014

Campbell Catarina D, Mohajeri Kiana, Malig Maika, Hormozdiari Fereydoun, Nelson Benjamin, Du Gaixin, Patterson Kristen M, Eng Celeste, Torgerson Dara G, Hu Donglei, Herman Catherine, Chong Jessica X, Ko Arthur, O'Roak Brian J, Krumm Niklas, Vives Laura, Lee Choli, Roth Lindsey A, Rodriguez-Cintron William, Rodriguez-Santana Jose, Brigino-Buenaventura Emerita, Davis Adam, Meade Kelley, LeNoir Michael A, Thyne Shannon, Jackson Daniel J, Gern James E, Lemanske Robert F, Shendure Jay, Abney Mark, Burchard Esteban G, Ober Carole, Eichler Evan E

Abstract excerpt

Asthma is a complex genetic disease caused by a combination of genetic and environmental risk factors. We sought to test classes of genetic variants largely missed by genome-wide association studies (GWAS), including copy number variants (CNVs) and low-frequency variants, by performing whole-genome sequencing (WGS) on 16 individuals from asthma-enriched and asthma-depleted families. The samples were obtained from...

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PMID: 25116239
DOI: 10.1371/journal.pone.0104396
PMCID: PMC4130548

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