Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.
Nat Genet
; 50(4): 493-497, 2018 04.
Article
em En
| MEDLINE
| ID: mdl-29610479
ABSTRACT
Genome-wide association studies have identified thousands of genetic variants that are associated with disease 1 . Most of these variants have small effect sizes, but their downstream expression effects, so-called expression quantitative trait loci (eQTLs), are often large 2 and celltype-specific3-5. To identify these celltype-specific eQTLs using an unbiased approach, we used single-cell RNA sequencing to generate expression profiles of ~25,000 peripheral blood mononuclear cells from 45 donors. We identified previously reported cis-eQTLs, but also identified new celltype-specific cis-eQTLs. Finally, we generated personalized co-expression networks and identified genetic variants that significantly alter co-expression relationships (which we termed 'co-expression QTLs'). Single-cell eQTL analysis thus allows for the identification of genetic variants that impact regulatory networks.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência de RNA
/
Locos de Características Quantitativas
/
Análise de Célula Única
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Holanda