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Nucleic Acids Res ; 49(D1): D1431-D1444, 2021 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-33095866

RESUMEN

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.


Asunto(s)
Enfermedad de Alzheimer/genética , Bases de Datos Genéticas , Diabetes Mellitus Tipo 2/genética , Variación Genética , Genoma Humano , Sitios de Carácter Cuantitativo , Enfermedad de Alzheimer/metabolismo , Enfermedad de Alzheimer/patología , Cromatina , Ensamble y Desensamble de Cromatina , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/patología , Elementos de Facilitación Genéticos , Humanos , Internet , Anotación de Secuencia Molecular , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Programas Informáticos
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