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Article

Estimating genetic load from 5000 Chinese exomes.

Journal of genetics and genomics = Yi chuan xue bao - 1 Mar 2026

Du Xiaoyue, Zhang Xiaoxi, Wang Jiucun, Jin Li, Xu Shuhua

Abstract excerpt

Recent advancements in genome sequencing have enabled the estimation of genetic load through deleterious mutation profiling. However, Chinese populations remain underexplored in this context. We analyze whole-exome sequencing data from 5002 individuals, encompassing major Han subgroups-North Han (N-Han), South Han (S-Han), and Guangxi Han (G-Han)-as well as 13 ethnic minorities. Notably, G-Han exhibits...

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Identifiers

PMID: 40889739
DOI: 10.1016/j.jgg.2025.08.009

Genes

ABCC11
ALDH2
GJB2
HBB
LDLR
MTHFR
PRPF4
TUB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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