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Article

An analytical framework for decoding cell type-specific genetic variation of gene regulation.

Nature communications - 30 Jun 2023

Xiao Yanyu, Wang Jingjing, Li Jiaqi, Zhang Peijing, Li Jingyu, Zhou Yincong, Zhou Qing, Chen Ming, Sheng Xin, Liu Zhihong, Han Xiaoping, Guo Guoji

Abstract excerpt

A deeper understanding of genetic regulation and functional mechanisms underlying genetic associations with complex traits and diseases is impeded by cellular heterogeneity and linkage disequilibrium. To address these limits, we introduce Huatuo, a framework to decode genetic variation of gene regulation at cell type and single-nucleotide resolutions by integrating deep-learning-based variant predictions with...

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Identifiers

PMID: 37391400
DOI: 10.1038/s41467-023-39538-7
PMCID: PMC10313894

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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