Article

Large-scale trans-ethnic replication and discovery of genetic associations for rare diseases with self-reported medical data

2021-06-16

Abstract excerpt

A key challenge in the study of rare disease genetics is assembling large case cohorts for well-powered studies. We demonstrate the use of self-reported diagnosis data to study rare diseases at scale. We performed genome-wide association studies (GWAS) for 33 rare diseases using self-reported diagnosis phenotypes and re-discovered 29 known associations to validate our approach. In addition, we performed the first...

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Literature Corpus work: 4188fa9f-f89f-53e3-bfc9-af2a622851a7
DOI: 10.1101/2021.06.09.21258643

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