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Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs

Lifelines Cohort Study & BIOS Consortium, 2-Apr-2018, In : Nature Genetics. 50, 4, p. 493-497 5 p.

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  • Single-cell RNA sequencing identifies

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DOI

  • Lifelines Cohort Study
  • BIOS Consortium

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.

Original languageEnglish
Pages (from-to)493-497
Number of pages5
JournalNature Genetics
Volume50
Issue number4
Publication statusPublished - 2-Apr-2018

    Keywords

  • scRNA-seq, eQTL, co-expression QTL, single-cell RNA-sequencing, gene regulation, DRIVERS, PANEL, GENE-EXPRESSION, GENOTYPE IMPUTATION, IMMUNE CELLS, ASSOCIATIONS, REGULATORS

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