Phenome‐wide association studies: a new method for functional genomics in humans

• Published in: The Journal of physiology Vol. 595; no. 12; pp. 4109 - 4115
• Main Author: Roden, Dan M.
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 15.06.2017; John Wiley and Sons Inc
• Subjects: Animals; biobanks; Deoxyribonucleic acid; DNA; electronic health records; Electronic medical records; Genome-Wide Association Study - methods; genomics; Genomics - methods; GWAS; Harnessing Big Clinical Data for Basic Discovery; Humans; phenome; Phenotype; PheWAS; polygenic risk score; Polymorphism; Polymorphism, Single Nucleotide - genetics; Single-nucleotide polymorphism; Topical Review; PheWAS; biobanks; phenome; GWAS; genomics; electronic health records; polygenic risk score

In experimental physiological research, a common study design for examining the functional role of a gene or a genetic variant is to introduce that genetic variant into a model organism (such as yeast or mouse) and then to search for phenotypic consequences. The development of DNA biobanks linked to...