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MPRAVarDB: an online database and web server for exploring regulatory effects of genetic variants.

Authors :
Jin W
Xia Y
Nizomov J
Liu Y
Li Z
Lu Q
Chen L
Source :
Bioinformatics (Oxford, England) [Bioinformatics] 2024 Oct 01; Vol. 40 (10).
Publication Year :
2024

Abstract

Summary: Massively parallel reporter assay (MPRA) is an important technology for evaluating the impact of genetic variants on gene regulation. Here, we present MPRAVarDB, an online database and web server for exploring regulatory effects of genetic variants. MPRAVarDB harbors 18 MPRA experiments designed to assess the regulatory effects of genetic variants associated with GWAS loci, eQTLs, and genomic features, totaling 242 818 variants tested more than 30 cell lines and 30 human diseases or traits. MPRAVarDB enables users to query MPRA variants by genomic region, disease and cell line, or any combination of these parameters. Notably, MPRAVarDB offers a suite of pretrained machine-learning models tailored to the specific disease and cell line, facilitating the prediction of regulatory variants. The user-friendly interface allows users to receive query and prediction results with just a few clicks.<br />Availability and Implementation: https://mpravardb.rc.ufl.edu.<br /> (© The Author(s) 2024. Published by Oxford University Press.)

Details

Language :
English
ISSN :
1367-4811
Volume :
40
Issue :
10
Database :
MEDLINE
Journal :
Bioinformatics (Oxford, England)
Publication Type :
Academic Journal
Accession number :
39325859
Full Text :
https://doi.org/10.1093/bioinformatics/btae578