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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-8949403 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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