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Single-cell RNA sequencing reveals cell-type specific eQTLs in peripheral blood mononuclear cells

This proof-of-concept study shows that single-cell RNA sequencing in ~25,000 peripheral blood mononuclear cells (PBMCs) of 45 donors allows for the identification of cell type-specific cis expression quantitative trait loci effects (cis-eQTLs). Moreover, the significant top-eQTL effects show consistent allelic direction (94%) with previously published whole blood deepSAGE data. These cell type-specific eQTLs may give us additional insight into the downstream consequences of genetic risk factors for immune-mediated diseases.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003459 Illumina HiSeq 4000 8
EGAD00010001315 Illumina HiSeq4000 45
Publications Citations
Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.
Nat Genet 50: 2018 493-497
Reconstruction of Cell-type-Specific Interactomes at Single-Cell Resolution.
Cell Syst 9: 2019 559-568.e4
Alignment of single-cell RNA-seq samples without overcorrection using kernel density matching.
Genome Res 31: 2021 698-712
Hierarchical progressive learning of cell identities in single-cell data.
Nat Commun 12: 2021 2799
Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data.
Genome Biol 24: 2023 80