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HG Transcriptome sequencing in the INTERVAL cohort

We performed bulk RNA-sequencing on peripheral blood collected from 4,732 blood donors recruited as part of the INTERVAL study. Using these data, we mapped gene expression and splicing quantitative trait loci (QTLs). Then, we integrated these data with protein, metabolite and lipid QTLs in the same individuals. The study aimed to identify the shared genetic etiology across transcriptional phenotypes, molecular traits and health outcomes in humans.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001008015 Illumina NovaSeq 6000 1
Publications Citations
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants.
Am J Hum Genet 111: 2024 1524-1543
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