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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Detalhes bibliográficos

Principais autores:	Weichen Song, Yongyong Shi, Guan Ning Lin
Formato:	Artigo
Idioma:	Inglês
Publicado em:	eLife Sciences Publications Ltd 2024-04-01
coleção:	eLife
Assuntos:	functional genomics genome-wide association study deep learning fine-mapping polygenic prediction
Acesso em linha:	https://elifesciences.org/articles/92574
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