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通过组织特异性多祖分子数据推进人类基因组学中的公平性。

Advancing equity in human genomics through tissue-specific multi-ancestry molecular data.

机构信息

Institute of Translational Genomics, Helmholtz Munich, 85764 Neuherberg, Germany; Munich School for Data Science, Helmholtz Munich, 85764 Neuherberg, Germany; Technical University of Munich, School of Medicine, Graduate School of Experimental Medicine, 81675 Munich, Germany.

Institute of Translational Genomics, Helmholtz Munich, 85764 Neuherberg, Germany; Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, The University of Manchester, Manchester M13 9PT, UK.

出版信息

Cell Genom. 2024 Feb 14;4(2):100485. doi: 10.1016/j.xgen.2023.100485. Epub 2024 Jan 24.


DOI:10.1016/j.xgen.2023.100485
PMID:38272034
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10879035/
Abstract

There is a pressing need to generate molecular data from diverse tissues across global populations. These currently missing data are necessary to resolve genome-wide association study loci, identify effector genes, and move the translational genomics needle beyond European-ancestry individuals and the minority of diseases for which blood is the relevant tissue.

摘要

目前迫切需要从全球不同人群的各种组织中生成分子数据。这些缺失的数据对于解析全基因组关联研究的基因座、鉴定效应基因以及推动转化基因组学超越欧洲血统个体和少数血液相关疾病至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e424/10879035/e387b4463fec/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e424/10879035/e2f78e8eb163/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e424/10879035/e387b4463fec/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e424/10879035/e2f78e8eb163/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e424/10879035/e387b4463fec/gr2.jpg

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引用本文的文献

[1]
Unravelling the molecular mechanisms causal to type 2 diabetes across global populations and disease-relevant tissues.

medRxiv. 2025-5-7

[2]
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[6]
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[7]
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本文引用的文献

[1]
Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.

Nat Commun. 2023-5-30

[2]
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.

Cell Genom. 2022-10-12

[3]
Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank.

Nat Commun. 2023-2-3

[4]
Multi-Omics Studies in Historically Excluded Populations: The Road to Equity.

Clin Pharmacol Ther. 2023-3

[5]
Prevalence and prediction of medical distrust in a diverse medical genomic research sample.

Genet Med. 2022-7

[6]
Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans.

Hum Mol Genet. 2021-7-28

[7]
The GTEx Consortium atlas of genetic regulatory effects across human tissues.

Science. 2020-9-11

[8]
Mechanisms of tissue and cell-type specificity in heritable traits and diseases.

Nat Rev Genet. 2020-1-8

[9]
Genomics of disease risk in globally diverse populations.

Nat Rev Genet. 2019-6-24

[10]
The new era of precision population health: insights for the All of Us Research Program and beyond.

J Transl Med. 2018-7-27

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