1. Mining the ultimate phenome repository.
- Author
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Shah, Nigam H
- Subjects
- *
PHENOTYPES , *HUMAN genetic variation , *RESEARCH methodology , *ETIOLOGY of diseases - Abstract
The article discusses the phenome-wide association study (PheWAS), a research methodology for determining the influence of genetic variation on disease etiology. It mentions that the approach was first described by J.C. Denny and colleagues in the year 2010. It further states that the methodology requires establishing association between genetic variants and disease phenotypes. It also discusses the genome-wide association studies (GWAS), examination of common genetic variants.
- Published
- 2013
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