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Article

Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias.

American journal of human genetics - 5 Sept 2024

Ellis Colin A, Oliver Karen L, Harris Rebekah V, Ottman Ruth, Scheffer Ingrid E, Mefford Heather C, Epstein Michael P, Berkovic Samuel F, Bahlo Melanie

Abstract excerpt

Polygenic risk scores (PRSs) are an important tool for understanding the role of common genetic variants in human disease. Standard best practices recommend that PRSs be analyzed in cohorts that are independent of the genome-wide association study (GWAS) used to derive the scores without sample overlap or relatedness between the two cohorts. However, identifying sample overlap and relatedness can be challenging...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39168121
DOI: 10.1016/j.ajhg.2024.07.014
PMCID: PMC11393675

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