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Article

Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases.

American journal of human genetics - 7 May 2020

DeBoever Christopher, Tanigawa Yosuke, Aguirre Matthew, McInnes Greg, Lavertu Adam, Rivas Manuel A

Abstract excerpt

Population-scale biobanks that combine genetic data and high-dimensional phenotyping for a large number of participants provide an exciting opportunity to perform genome-wide association studies (GWAS) to identify genetic variants associated with diverse quantitative traits and diseases. A major challenge for GWAS in population biobanks is ascertaining disease cases from heterogeneous data sources such as...

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PMID: 32275883
DOI: 10.1016/j.ajhg.2020.03.007
PMCID: PMC7212271

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