Article
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB.
Journal of medical genetics - 1 Mar 2022
Wei Jun, Shi Zhuqing, Na Rong, Resurreccion W Kyle, Wang Chi-Hsiung, Duggan David, Zheng S Lilly, Hulick Peter J, Helfand Brian T, Xu Jianfeng
Abstract excerpt
BACKGROUND: SNP-based polygenic risk scores have recently been adopted in the clinic for risk assessment of some common diseases. Their validity is supported by a consistent trend between their percentile rank and disease risk in populations. However, for clinical use at the individual level, the reliability of score values is necessary considering they are directly used to calculate remaining lifetime risk....
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