scQTLbase: an integrated human single-cell eQTL database.
Nucleic Acids Res
; 52(D1): D1010-D1017, 2024 Jan 05.
Article
em En
| MEDLINE
| ID: mdl-37791879
ABSTRACT
Genome-wide association studies (GWAS) have identified numerous genetic variants associated with diseases and traits. However, the functional interpretation of these variants remains challenging. Expression quantitative trait loci (eQTLs) have been widely used to identify mutations linked to disease, yet they explain only 20-50% of disease-related variants. Single-cell eQTLs (sc-eQTLs) studies provide an immense opportunity to identify new disease risk genes with expanded eQTL scales and transcriptional regulation at a much finer resolution. However, there is no comprehensive database dedicated to single-cell eQTLs that users can use to search, analyse and visualize them. Therefore, we developed the scQTLbase (http//bioinfo.szbl.ac.cn/scQTLbase), the first integrated human sc-eQTLs portal, featuring 304 datasets spanning 57 cell types and 95 cell states. It contains â¼16 million SNPs significantly associated with cell-type/state gene expression and â¼0.69 million disease-associated sc-eQTLs from 3 333 traits/diseases. In addition, scQTLbase offers sc-eQTL search, gene expression visualization in UMAP plots, a genome browser, and colocalization visualization based on the GWAS dataset of interest. scQTLbase provides a one-stop portal for sc-eQTLs that will significantly advance the discovery of disease susceptibility genes.
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Base de dados:
MEDLINE
Assunto principal:
Bases de Dados Genéticas
/
Locos de Características Quantitativas
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Estudo de Associação Genômica Ampla
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article