The DOI matches its Crossref record; 91 of the 93 references it cites were found in a registry or an index.
The study of eQTL variations by RNA-seq: from SNPs to phenotypes
Abstract
Common DNA variants alter the expression levels and patterns of many human genes. Loci responsible for this genetic control are known as expression quantitative trait loci (eQTLs). The resulting variation of gene expression across individuals has been postulated to be a determinant of phenotypic variation and susceptibility to complex disease. In the past, the application of expression microarray and genetic variation data to study populations enabled the rapid identification of eQTLs in model organisms and humans. Now, a new technology promises to revolutionize the field. Massively parallel RNA sequencing (RNA-seq) provides unprecedented resolution, allowing us to accurately monitor not only the expression output of each genomic locus but also reconstruct and quantify alternatively spliced transcripts. RNA-seq also provides new insights into the regulatory mechanisms underlying eQTLs. Here, we discuss the major advances introduced by RNA-seq and summarize current progress towards understanding the role of eQTLs in determining human phenotypic diversity.
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“eQTL analysis shows that gene expression and splicing are heavily influenced by common variants, possibly for the majority of transcripts86–88.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [87]
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Genome-wide association analysis identifies 13 new risk loci for schizophrenia
Multicenter Genetic Studies of Schizophrenia Consortium, Ripke, S., Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2742 · Cited by 1,496
Rare and common variants: twenty arguments
Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278
Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capturePreprint
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Pleiotropy in complex traits: challenges and strategies
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Metadata
- Authors
- Majewski, J., & Pastinen, T.
- Affiliations
- McGill University and Génome Québec Innovation Centre (CA)
- Corresponding author
- Majewski, Jacek
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2011-02
- Volume
- 27
- Issue
- 2
- Pages
- 72-79
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2009170877
- Cited by
- 232
- References
- 93
- Citations by year
- 2026: 3 · 2025: 10 · 2024: 6 · 2023: 13 · 2022: 13 · 2021: 11 · 2020: 8 · 2019: 13 · 2018: 9 · 2017: 11 · 2016: 18 · 2015: 23 · 2014: 23 · 2013: 27 · 2012: 29
- FWCI
- 2.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- expression quantitative trait loci, RNA-seq, gene expression variation, single nucleotide polymorphisms, phenotypic variability, alternative splicing, transcriptome, genetic regulation of gene expression, complex disease susceptibility
- MeSH terms
- Animals, Gene Expression Regulation, Humans, Phenotype, Transcription, Genetic, Sequence Analysis, RNA, Polymorphism, Single Nucleotide, Quantitative Trait Loci
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