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Article

Transcriptome-wide association study and eQTL colocalization identify potentially causal genes responsible for human bone mineral density GWAS associations.

eLife - 23 Nov 2022

Al-Barghouthi Basel Maher, Rosenow Will T, Du Kang-Ping, Heo Jinho, Maynard Robert, Mesner Larry, Calabrese Gina, Nakasone Aaron, Senwar Bhavya, Gerstenfeld Louis, Larner James, Ferguson Virginia, Ackert-Bicknell Cheryl, Morgan Elise, Brautigan David, Farber Charles R

Abstract excerpt

Genome-wide association studies (GWASs) for bone mineral density (BMD) in humans have identified over 1100 associations to date. However, identifying causal genes implicated by such studies has been challenging. Recent advances in the development of transcriptome reference datasets and computational approaches such as transcriptome-wide association studies (TWASs) and expression quantitative trait loci (eQTL)...

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Identifiers

PMID: 36416764
DOI: 10.7554/eLife.77285
PMCID: PMC9683789

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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