Genome-wide allele-specific analysis: insights into regulatory variation
Abstract
Functional genomics is rapidly progressing towards the elucidation of elements that are crucial for the cis-regulatory control of gene expression, and population-based studies of disease and gene expression traits are yielding widespread evidence of the influence of non-coding variants on trait variance. Recently, genome-wide allele-specific approaches that harness high-throughput sequencing technology have started to allow direct evaluation of how these cis-regulatory polymorphisms control gene expression and affect chromatin states. The emerging data is providing exciting opportunities for comprehensive characterization of the allele-specific events that govern human gene regulation.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Reads that overlap heterozygous SNPs can be mapped to maternal and paternal chromosomes, enabling quantification of allele-specific expression within an individual.
“Second, reads that overlap heterozygous SNPs can be mapped to maternal and paternal chromosomes, enabling quantification of allele-specific expression within an individual [129].”
From A survey of best practices for RNA-seq data analysis (2016) · cites this paper as [129]
The citation lists haven’t been fetched yet
References 34 · Cited by 291
- Authors
- Pastinen, T.
- Affiliations
- McGill University and Génome Québec Innovation Centre (CA)
- Corresponding author
- Pastinen, Tomi
- ORCID
- Pastinen, Tomi
- Venue
- Nature Reviews Genetics
- Published
- 2010-06-22
- Volume
- 11
- Issue
- 8
- Pages
- 533-538
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2025302103
- Cited by
- 291
- References
- 34
- Citations by year
- 2026: 10 · 2025: 10 · 2024: 9 · 2023: 5 · 2022: 15 · 2021: 16 · 2020: 12 · 2019: 17 · 2018: 19 · 2017: 17 · 2016: 21 · 2015: 26 · 2014: 31 · 2013: 31 · 2012: 21
- FWCI
- 2.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Genome Canada
- Canada Research Chairs
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- allele-specific expression, cis-regulatory variation, cis-regulatory polymorphisms, non-coding variants, gene expression regulation, histone modifications, DNA methylation, chromatin state
- MeSH terms
- Alleles, Chromatin, Disease, Humans, Polymorphism, Genetic, Tissue Distribution, Transcriptional Activation, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Genomics, Quantitative Trait Loci, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
