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The Power of Single-Cell RNA Sequencing in eQTL Discovery

Genome-wide association studies have successfully mapped thousands of loci associated with complex traits. During the last decade, functional genomics approaches combining genotype information with bulk RNA-sequencing data have identified genes regulated by GWAS loci through expression quantitative...

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Autores principales: Maria, Maleeha, Pouyanfar, Negar, Örd, Tiit, Kaikkonen, Minna U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949403/
https://www.ncbi.nlm.nih.gov/pubmed/35328055
http://dx.doi.org/10.3390/genes13030502
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author Maria, Maleeha
Pouyanfar, Negar
Örd, Tiit
Kaikkonen, Minna U.
author_facet Maria, Maleeha
Pouyanfar, Negar
Örd, Tiit
Kaikkonen, Minna U.
author_sort Maria, Maleeha
collection PubMed
description Genome-wide association studies have successfully mapped thousands of loci associated with complex traits. During the last decade, functional genomics approaches combining genotype information with bulk RNA-sequencing data have identified genes regulated by GWAS loci through expression quantitative trait locus (eQTL) analysis. Single-cell RNA-Sequencing (scRNA-Seq) technologies have created new exciting opportunities for spatiotemporal assessment of changes in gene expression at the single-cell level in complex and inherited conditions. A growing number of studies have demonstrated the power of scRNA-Seq in eQTL mapping across different cell types, developmental stages and stimuli that could be obscured when using bulk RNA-Seq methods. In this review, we outline the methodological principles, advantages, limitations and the future experimental and analytical considerations of single-cell eQTL studies. We look forward to the explosion of single-cell eQTL studies applied to large-scale population genetics to take us one step closer to understanding the molecular mechanisms of disease.
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spelling pubmed-89494032022-03-26 The Power of Single-Cell RNA Sequencing in eQTL Discovery Maria, Maleeha Pouyanfar, Negar Örd, Tiit Kaikkonen, Minna U. Genes (Basel) Review Genome-wide association studies have successfully mapped thousands of loci associated with complex traits. During the last decade, functional genomics approaches combining genotype information with bulk RNA-sequencing data have identified genes regulated by GWAS loci through expression quantitative trait locus (eQTL) analysis. Single-cell RNA-Sequencing (scRNA-Seq) technologies have created new exciting opportunities for spatiotemporal assessment of changes in gene expression at the single-cell level in complex and inherited conditions. A growing number of studies have demonstrated the power of scRNA-Seq in eQTL mapping across different cell types, developmental stages and stimuli that could be obscured when using bulk RNA-Seq methods. In this review, we outline the methodological principles, advantages, limitations and the future experimental and analytical considerations of single-cell eQTL studies. We look forward to the explosion of single-cell eQTL studies applied to large-scale population genetics to take us one step closer to understanding the molecular mechanisms of disease. MDPI 2022-03-12 /pmc/articles/PMC8949403/ /pubmed/35328055 http://dx.doi.org/10.3390/genes13030502 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Maria, Maleeha
Pouyanfar, Negar
Örd, Tiit
Kaikkonen, Minna U.
The Power of Single-Cell RNA Sequencing in eQTL Discovery
title The Power of Single-Cell RNA Sequencing in eQTL Discovery
title_full The Power of Single-Cell RNA Sequencing in eQTL Discovery
title_fullStr The Power of Single-Cell RNA Sequencing in eQTL Discovery
title_full_unstemmed The Power of Single-Cell RNA Sequencing in eQTL Discovery
title_short The Power of Single-Cell RNA Sequencing in eQTL Discovery
title_sort power of single-cell rna sequencing in eqtl discovery
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949403/
https://www.ncbi.nlm.nih.gov/pubmed/35328055
http://dx.doi.org/10.3390/genes13030502
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