Article

Integrating Whole Genome and Transcriptome Sequencing to Characterize the Genetic Architecture of Isoform Variation and its Implications for Health and Disease

2024-12-06

Abstract excerpt

<h4>ABSTRACT</h4> We created a comprehensive whole blood splice variation quantitative trait locus (sQTL) resource by analyzing isoform expression ratio (isoform-to-gene) in Framingham Heart Study (FHS) participants (discovery: n=2,622; validation: n=1,094) with whole genome (WGS) and transcriptome sequencing (RNA-seq) data. External replication was conducted using WGS and RNA-seq from the Jackson Heart Study (JH...

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Literature Corpus work: 46437deb-e404-5520-8654-c2baee05971b
DOI: 10.1101/2024.12.04.24318434

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