Nature Communications (Sep 2021)

Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction

  • Jiangming Sun,
  • Yunpeng Wang,
  • Lasse Folkersen,
  • Yan Borné,
  • Inge Amlien,
  • Alfonso Buil,
  • Marju Orho-Melander,
  • Anders D. Børglum,
  • David M. Hougaard,
  • Regeneron Genetics Center,
  • Olle Melander,
  • Gunnar Engström,
  • Thomas Werge,
  • Kasper Lage

DOI
https://doi.org/10.1038/s41467-021-25014-7
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 9

Abstract

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The application of polygenic risk scores to individual-level disease susceptibility is challenging, as risk is evaluated at a group-level. Here, the authors describe a machine learning method, Mondrian Cross-Conformal Prediction, that reports disease status conditional probability value at the individual level.