Haplotype function score improves biological interpretation and cross-ancestry polygenic prediction of human complex traits

Haplotype function score improves biological interpretation and cross-ancestry polygenic prediction of human complex traits

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 g...

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Bibliographic Details
Main Authors: Weichen Song, Yongyong Shi, Guan Ning Lin
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2024-04-01
Series:eLife
Subjects:
functional genomics
genome-wide association study
deep learning
fine-mapping
polygenic prediction
Online Access:https://elifesciences.org/articles/92574

Internet

https://elifesciences.org/articles/92574

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