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Article

Estimating disease prevalence in large datasets using genetic risk scores.

Nature communications - 8 Nov 2021

Evans Benjamin D, Słowiński Piotr, Hattersley Andrew T, Jones Samuel E, Sharp Seth, Kimmitt Robert A, Weedon Michael N, Oram Richard A, Tsaneva-Atanasova Krasimira, Thomas Nicholas J

Abstract excerpt

Clinical classification is essential for estimating disease prevalence but is difficult, often requiring complex investigations. The widespread availability of population level genetic data makes novel genetic stratification techniques a highly attractive alternative. We propose a generalizable mathematical framework for determining disease prevalence within a cohort using genetic risk scores. We compare and...

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Identifiers

PMID: 34750397
DOI: 10.1038/s41467-021-26501-7
PMCID: PMC8575951

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