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Updated: Oct 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
From Mendel's peas to polygenic prediction
1Division of Cardiovascular Medicine, the Cardiovascular Research Center and the Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
Abstract:
Polygenic risk scores (PRSs) aggregate genome-wide genetic variants into quantitative estimates of disease susceptibility. I describe how PRSs evolved from the early work of Mendel and Fisher and argue that they are ready for implementation in selected conditions within genomic learning health systems that iterate as evidence accumulates.
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