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Article

Empirical evaluation of analytic validity of polygenic scores.

Genome medicine - 23 Apr 2026

Lin Tian, Zeng Jian, Gordon Scott D, Wallace Leanne, Ziser Laura, Shah Sonia, Pain Oliver, Nolte Ilja M, Snieder Harold, James Paul A, Martin Nicholas G, Visscher Peter M, Lee Eric, Yengo Loic, Henders Anjali K, Wray Naomi R

Abstract excerpt

BACKGROUND: Polygenic scores (PGSs) are weighted sum scores of trait-associated alleles from up to millions of SNPs. As PGS research pivots to translation into health care settings a key issue for laboratories providing PGS is demonstration of analytical validity of PGS. METHODS: We report data from 6 individuals who have been genotyped multiple times using the same and different technologies. These data were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42026678
DOI: 10.1186/s13073-026-01654-6
PMCID: PMC13238075

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