Combined rare and common variant polygenic risk score

1. Combined rare and common variant polygenic risk score improves prediction accuracy in silico (AAUC 0.68 vs. 0.66).

   “Combining rvPRS and cvPRS (rv_cvPRS) improved prediction accuracy (AAUC = 0.68 vs. 0.66 for cvPRS alone), particularly at extreme PRS scores.”

   In silicoLatin American ancestry cohort

   Leveraging Rare Variant Association Analyses to Develop Polygenic Risk Scores (PRSs) for Type 2 Diabetes (T2D)

   ADA Scientific Sessions 2025 abstract·13 Jun 2025

1. Combined rare and common variant polygenic risk score raises the risk of type 2 diabetes in humans (OR 5.7 (95% CI 4.3-7.4)).

   “Individuals at the 95th percentile of the rv_cvPRS had an odds ratio (OR) of 5.7 (4.3-7.4, p = 3.7x10-36) compared to 3.7 (2.9-4.7, p = 1.2x10-26) for the cvPRS.”

   Humans95th percentile vs rest

   Leveraging Rare Variant Association Analyses to Develop Polygenic Risk Scores (PRSs) for Type 2 Diabetes (T2D)

   ADA Scientific Sessions 2025 abstract·13 Jun 2025

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