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Article

Identification of common genetic variants controlling transcript isoform variation in human whole blood.

Nature genetics - 1 Apr 2015

Zhang Xiaoling, Joehanes Roby, Chen Brian H, Huan Tianxiao, Ying Saixia, Munson Peter J, Johnson Andrew D, Levy Daniel, O'Donnell Christopher J

Abstract excerpt

An understanding of the genetic variation underlying transcript splicing is essential to dissect the molecular mechanisms of common disease. The available evidence from splicing quantitative trait locus (sQTL) studies has been limited to small samples. We performed genome-wide screening to identify SNPs that might control mRNA splicing in whole blood collected from 5,257 Framingham Heart Study participants. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25685889
DOI: 10.1038/ng.3220
PMCID: PMC8273720

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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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