Evidence map›Paper›PMID 23275551›Full record

ArticleNucleic acids research2013

Transcription factor and chromatin features predict genes associated with eQTLs.

Dennis Wang, Augusto Rendon, Lorenz Wernisch

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
1.5field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

22 citing papers in PubMed, 35 citations in OpenAlex.

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  8. Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (Journal of the American Society of Nephrology : JASN · 2021
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  14. GeneHancer: genome-wide integration of enhancers and target genes in GeneCards.Database : the journal of biological databases and curation · 2017
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Dennis WangMRC Biostatistics Unit, Institute of Public Health, Robinson Way, Cambridge CB2 0SR, UK. dennis.wang@mrc-bsu.cam.ac.uk
Augusto Rendon
Lorenz Wernisch
NIHR Cambridge Biomedical Research CentreMRC Biostatistics Unit · GB

Funding

British Heart FoundationMedical Research Council MC_U105260799
6 · The paper itself

Abstract

Cell type-specific gene expression in humans involves complex interactions between regulatory factors and DNA at enhancers and promoters. Mapping studies for expression quantitative trait loci (eQTLs), transcription factors (TFs) and chromatin markers have become widely used tools for identifying gene regulatory elements, but prediction of target genes remains a major challenge. Here, we integrate genome-wide data on TF-binding sites, chromatin markers and functional annotations to predict genes associated with human eQTLs. Using the random forest classifier, we found that genomic proximity plus five TF and chromatin features are able to predict >90% of target genes within 1 megabase of eQTLs. Despite being regularly used to map target genes, proximity is not a good indicator of eQTL targets for genes 150 kilobases away, but insulators, TF co-occurrence, open chromatin and functional similarities between TFs and genes are better indicators. Using all six features in the classifier achieved an area under the specificity and sensitivity curve of 0.91, much better compared with at most 0.75 for using any single feature. We hope this study will not only provide validation of eQTL-mapping studies, but also provide insight into the molecular mechanisms explaining how genetic variation can influence gene expression.

Indexed as

AlgorithmsQuantitative Trait LociRegulatory Elements, TranscriptionalBinding SitesChromatinChromosomesEnhancer Elements, GeneticGene ExpressionHistonesHumansPromoter Regions, GeneticTranscription FactorsChromatinHistonesTranscription Factors

Identifiers

PMID23275551
PMCPMC3561974
OpenAlexW1973064777

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.