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- W3155408676 abstract "Abstract Polygenic risk scores (PRSs) for predicting disease risk have become increasingly accurate, leading to rising popularity of PRS tests. Consider an individual whose PRS test has placed him/her at the top q -quantile of genetic risk. Recently, Reid et al. (Circ Genom Precis Med. 2021;14:e003262) have investigated whether such a finding should motivate cascade screening in the proband’s siblings. Specifically, using data from the UK biobank, Reid et al. computed the empirical probability of a sibling of the proband to also have a PRS at the top q -quantile. In this short note, I use the liability threshold model to compute this probability analytically (for either a sibling of the proband or for a more distant relative), showing excellent agreement with the empirical results of Reid et al., including that this probability is disease-independent. Further, I compute the probability of the relative of the proband to be affected, as a function of the quantile threshold q , the proportion of variance explained by the score, and the disease prevalence." @default.
- W3155408676 created "2021-04-26" @default.
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- W3155408676 date "2021-04-12" @default.
- W3155408676 modified "2023-10-16" @default.
- W3155408676 title "Cascade screening following a polygenic risk score test: what is the risk of a relative conditional on a high score of a proband?" @default.
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- W3155408676 doi "https://doi.org/10.1101/2021.04.11.439329" @default.
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