Genomic platform specific polygenic risk scores impact breast cancer risk stratification.

ABSTRACT:

Background

At present, there is no consensus on which genotyping platform should serve as the standard for clinical polygenic risk score (PRS) implementation. Previous studies have compared the overall performance and concordance of different genotyping and sequencing technologies; however, these analyses have generally averaged the results over the whole genome. We evaluated differences in a 313-variant breast cancer PRS (PRS₃₁₃) across genomic platforms and their impact on risk stratification.

Methods

We compare PRS₃₁₃ derived from genotyping arrays (Global Screening Array [GSA], OncoArray-500K [OncoArray], Global Diversity Array [GDA], custom Axiom_PrecipV1 array [ThermoFisher]) and low-coverage genome sequencing (lc-WGS) in 2 cell lines and 92 indiv

SUBMITTER: Ho PJ 

PROVIDER: S-EPMC12820083 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature