Cell type specific genetic regulation of gene expression across human tissues
Stephane E. Castel,
Andrew R Hamel,
Amy L Roberts,
Alvaro N Barbeira,
José Manuel Soria,
Emmanouil T. Dermitzakis,
Kerrin S. Small,
Hualin S Xi,
Hae Kyung Im,
Ayellet V Segrè,
Barbara E. Stranger,
Kristin G Ardlie,
Posted 16 Oct 2019
bioRxiv DOI: 10.1101/806117
Posted 16 Oct 2019
The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci ( cis -QTLs) for the majority of genes across a wide range of human tissues. However, the interpretation of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. Here, we map interactions between computational estimates of cell type abundance and genotype to identify cell type interaction QTLs for seven cell types and show that cell type interaction eQTLs provide finer resolution to tissue specificity than bulk tissue cis -eQTLs. Analyses of genetic associations to 87 complex traits show a contribution from cell type interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue. One Sentence Summary Estimated cell type abundances from bulk RNA-seq across tissues reveal the cellular specificity of quantitative trait loci.
- Downloaded 1,749 times
- Download rankings, all-time:
- Site-wide: 4,550 out of 89,238
- In genomics: 767 out of 5,694
- Year to date:
- Site-wide: 1,998 out of 89,238
- Since beginning of last month:
- Site-wide: 2,379 out of 89,238
Downloads over time
Distribution of downloads per paper, site-wide
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!