Article

Haplotype Function Score improves biological interpretation and cross-ancestry polygenic prediction of human complex traits

2023-08-09

Abstract excerpt

We propose a new framework for human genetic association studies: at each locus, a deep learning model (in this study, Sei) is used to calculate the functional genomic activity score for two haplotypes per individual. This score, defined as the Haplotype Function Score (HFS), replaces the original genotype in association studies. Applying the HFS framework to 14 complex traits in the UK Biobank, we identified 3,61...

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Literature Corpus work: d8b7b791-5646-58c5-a2fe-fc695070acd3
DOI: 10.1101/2023.08.08.552392

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