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

oleh: 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

Format: Article
Diterbitkan: Nature Portfolio 2021-09-01

Deskripsi

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.