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Phenome-wide associated studies software tools | Genotype-phenotype interactions

Phenome-wide associated studies software tools | Genotype-phenotype interactions

The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to identify clinically significant associations and describing function can be a challenge. GWAS is a phenotype-to-genotype approach. It is now possible to conduct a converse genotype-to-phenotype approach using extensive electronic medical records to define a phenome. This approach associates a single genetic variant with many phenotypes across the phenome and is called a phenome-wide association study (PheWAS).

Source text:
(Ye et al., 2015) Phenome-wide association studies (PheWASs) for functional variants. Eur J Hum Genet.

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