Article

Deconvolution of polygenic risk score in single cells unravels cellular and molecular heterogeneity of complex human diseases

2024-05-14

Abstract excerpt

Polygenic risk scores (PRSs) are commonly used for predicting an individual's genetic risk of complex diseases. Yet, their implication for disease pathogenesis remains largely limited. Here, we introduce scPRS, a geometric deep learning model that constructs single-cell-resolved PRS leveraging reference single-cell chromatin accessibility profiling data to enhance biological discovery as well as disease prediction...

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Literature Corpus work: ab80748a-bfc8-5bea-b775-adebe499b0c6
DOI: 10.1101/2024.05.14.594252

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