Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 66,889 bioRxiv papers from 294,492 authors.
Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change
Mapping cis-acting expression quantitative trait loci (cis-eQTL) has become a popular approach for characterizing proximal genetic regulatory variants. However, measures used for quantifying the effect size of cis-eQTLs have been inconsistent and poorly defined. In this paper, we describe log allelic fold change (aFC) as a biologically interpretable and mathematically convenient unit that represents the magnitude of expression change associated with a given genetic variant. This measure is mathematically independent from expression level and allele frequency, applicable to multi-allelic variants, and generalizable to multiple independent variants. We provide tools and guidelines for estimating aFC from eQTL and allelic expression data sets, and apply it to GTEx data. We show that aFC estimates independently derived from eQTL and allelic expression data are highly consistent, and identify technical and biological correlates of eQTL effect size. We generalize aFC to analyze genes with two eQTLs in GTEx, and show that in nearly all cases these eQTLs are independent in their regulatory activity. In summary, aFC is a solid measure of cis-regulatory effect size that allows quantitative interpretation of cellular regulatory events from population data, and it is a valuable approach for investigating novel aspects of eQTL data sets.
- Downloaded 2,037 times
- Download rankings, all-time:
- Site-wide: 2,350 out of 66,889
- In bioinformatics: 478 out of 6,601
- Year to date:
- Site-wide: 28,988 out of 66,889
- Since beginning of last month:
- Site-wide: 11,977 out of 66,889
Downloads over time
Distribution of downloads per paper, site-wide
- Top preprints of 2018
- Paper search
- Author leaderboards
- Overall metrics
- The API
- Email newsletter
- 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!