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Expression quantitative trait locus studies in the era of single-cell omics
Genome-wide association studies have revealed that the regulation of gene expression bridges genetic variants and complex phenotypes. Profiling of the bulk transcriptome coupled with linkage analysis (expression quantitative trait locus (eQTL) mapping) has advanced our understanding of the relations...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239882/ https://www.ncbi.nlm.nih.gov/pubmed/37284065 http://dx.doi.org/10.3389/fgene.2023.1182579 |
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author | Luo, Jie Wu, Xinyi Cheng, Yuan Chen, Guang Wang, Jian Song, Xijiao |
author_facet | Luo, Jie Wu, Xinyi Cheng, Yuan Chen, Guang Wang, Jian Song, Xijiao |
author_sort | Luo, Jie |
collection | PubMed |
description | Genome-wide association studies have revealed that the regulation of gene expression bridges genetic variants and complex phenotypes. Profiling of the bulk transcriptome coupled with linkage analysis (expression quantitative trait locus (eQTL) mapping) has advanced our understanding of the relationship between genetic variants and gene regulation in the context of complex phenotypes. However, bulk transcriptomics has inherited limitations as the regulation of gene expression tends to be cell-type-specific. The advent of single-cell RNA-seq technology now enables the identification of the cell-type-specific regulation of gene expression through a single-cell eQTL (sc-eQTL). In this review, we first provide an overview of sc-eQTL studies, including data processing and the mapping procedure of the sc-eQTL. We then discuss the benefits and limitations of sc-eQTL analyses. Finally, we present an overview of the current and future applications of sc-eQTL discoveries. |
format | Online Article Text |
id | pubmed-10239882 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-102398822023-06-06 Expression quantitative trait locus studies in the era of single-cell omics Luo, Jie Wu, Xinyi Cheng, Yuan Chen, Guang Wang, Jian Song, Xijiao Front Genet Genetics Genome-wide association studies have revealed that the regulation of gene expression bridges genetic variants and complex phenotypes. Profiling of the bulk transcriptome coupled with linkage analysis (expression quantitative trait locus (eQTL) mapping) has advanced our understanding of the relationship between genetic variants and gene regulation in the context of complex phenotypes. However, bulk transcriptomics has inherited limitations as the regulation of gene expression tends to be cell-type-specific. The advent of single-cell RNA-seq technology now enables the identification of the cell-type-specific regulation of gene expression through a single-cell eQTL (sc-eQTL). In this review, we first provide an overview of sc-eQTL studies, including data processing and the mapping procedure of the sc-eQTL. We then discuss the benefits and limitations of sc-eQTL analyses. Finally, we present an overview of the current and future applications of sc-eQTL discoveries. Frontiers Media S.A. 2023-05-22 /pmc/articles/PMC10239882/ /pubmed/37284065 http://dx.doi.org/10.3389/fgene.2023.1182579 Text en Copyright © 2023 Luo, Wu, Cheng, Chen, Wang and Song. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Luo, Jie Wu, Xinyi Cheng, Yuan Chen, Guang Wang, Jian Song, Xijiao Expression quantitative trait locus studies in the era of single-cell omics |
title | Expression quantitative trait locus studies in the era of single-cell omics |
title_full | Expression quantitative trait locus studies in the era of single-cell omics |
title_fullStr | Expression quantitative trait locus studies in the era of single-cell omics |
title_full_unstemmed | Expression quantitative trait locus studies in the era of single-cell omics |
title_short | Expression quantitative trait locus studies in the era of single-cell omics |
title_sort | expression quantitative trait locus studies in the era of single-cell omics |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239882/ https://www.ncbi.nlm.nih.gov/pubmed/37284065 http://dx.doi.org/10.3389/fgene.2023.1182579 |
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