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.

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

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.
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http://umcgresearchdatacatalogue.nl/catalogue_rdf/api/rdf/Contacts/firstName=Monique%20van%20der&lastName=Wijst&resource=EGAS00001002560
Name
Monique van der Wijst
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m.g.p.van.der.wijst@umcg.nl
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Publisher 1
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http://umcgresearchdatacatalogue.nl/catalogue_rdf/api/rdf/Agents/id=UMCG&resource=EGAS00001002560
Name
University Medical Center Groningen
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researchdatacatalogue@umcg.nl
URL
https://www.umcg.nl/
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Publisher note
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Identifier
https://ror.org/03cv38k47
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Creator 1
URI
http://umcgresearchdatacatalogue.nl/catalogue_rdf/api/rdf/Agents/id=UMCG&resource=EGAS00001002560
Name
University Medical Center Groningen
Name (translations)
Email
researchdatacatalogue@umcg.nl
URL
https://www.umcg.nl/
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Publisher note
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https://ror.org/03cv38k47
Landing page https://ega-archive.org/studies/EGAS00001002560
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    Identifier https://metadata.ega-archive.org/studies/EGAS00001002560
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    Access rights http://publications.europa.eu/resource/authority/access-right/NON_PUBLIC
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    1. http://publications.europa.eu/resource/authority/data-theme/HEAL
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    1. http://data.europa.eu/eli/reg/2022/868/oj
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    URI http://umcgresearchdatacatalogue.nl/catalogue_rdf/api/rdf/Resources/id=EGAS00001002560