VARAdb: a comprehensive variation annotation database for human.

Autor:	Pan Q; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Liu YJ; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Bai XF; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Han XL; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Jiang Y; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Ai B; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Shi SS; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Wang F; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Xu MC; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Wang YZ; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Zhao J; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Chen JX; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Zhang J; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Li XC; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Zhu J; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Zhang GR; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Wang QY; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China., Li CQ; School of Medical Informatics, Daqing Campus, Harbin Medical University. Daqing 163319, China.
Jazyk:	angličtina
Zdroj:	Nucleic acids research [Nucleic Acids Res] 2021 Jan 08; Vol. 49 (D1), pp. D1431-D1444.
DOI:	10.1093/nar/gkaa922
Abstrakt:	With the study of human diseases and biological processes increasing, a large number of non-coding variants have been identified and facilitated. The rapid accumulation of genetic and epigenomic information has resulted in an urgent need to collect and process data to explore the regulation of non-coding variants. Here, we developed a comprehensive variation annotation database for human (VARAdb, http://www.licpathway.net/VARAdb/), which specifically considers non-coding variants. VARAdb provides annotation information for 577,283,813 variations and novel variants, prioritizes variations based on scores using nine annotation categories, and supports pathway downstream analysis. Importantly, VARAdb integrates a large amount of genetic and epigenomic data into five annotation sections, which include 'Variation information', 'Regulatory information', 'Related genes', 'Chromatin accessibility' and 'Chromatin interaction'. The detailed annotation information consists of motif changes, risk SNPs, LD SNPs, eQTLs, clinical variant-drug-gene pairs, sequence conservation, somatic mutations, enhancers, super enhancers, promoters, transcription factors, chromatin states, histone modifications, chromatin accessibility regions and chromatin interactions. This database is a user-friendly interface to query, browse and visualize variations and related annotation information. VARAdb is a useful resource for selecting potential functional variations and interpreting their effects on human diseases and biological processes. (© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.)
Databáze:	MEDLINE
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