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Polygenic risk scores: a biased prediction?

Francisco M. De La Vega, Carlos D. Bustamante

Genome Medicine · 2018

doi:10.1186/s13073-018-0610-x (opens in a new tab)

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Abstract

A new study highlights the biases and inaccuracies of polygenic risk scores (PRS) when predicting disease risk in individuals from populations other than those used in their derivation. The design bias of workhorse tools used for research, particularly genotyping arrays, contributes to these distortions. To avoid further inequities in health outcomes, the inclusion of diverse populations in research, unbiased genotyping, and methods of bias reduction in PRS are critical.

Abstract licence: CC BY-NC-ND

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