Evidence map›Paper›PMID 29523079›Full record

ArticleBMC bioinformatics2018

HT-eQTL: integrative expression quantitative trait loci analysis in a large number of human tissues.

Gen Li, Dereje Jima, Fred A Wright, Andrew B Nobel

Abstract read
In one paragraph

Article in BMC bioinformatics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Expression Quantitative Trait Loci Analysis in Multiple Tissues.Methods in molecular biology (Clifton, N.J.) · 2020
    Article
  8. Article
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

4 authors.

Gen LiDepartment of Biostatistics, Mailman School of Public Health, Columbia University, 722 W 168 Street, New York, USA. gl2521@cumc.columbia.edu.ORCID 0000-0002-7298-2141
Dereje JimaCenter for Human Health and the Environment and Bioinformatics Research Center, North Carolina State University, 850 Main Campus Drive, Raleigh, 27695, USA.
Fred A WrightCenter for Human Health and the Environment and Bioinformatics Research Center, North Carolina State University, 850 Main Campus Drive, Raleigh, 27695, USA.
Andrew B NobelDepartment of Statistics and Operations Research and Department of Biostatistics, University of North Carolina at Chapel Hill, 318 E Cameron Avenue, Chapel Hill, 27599, USA.

Funding

STOCHASTIC ANALYSIS OF FLOW AND TRANSPORT PHENOMENAP42ES005948 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRY, REBECCA · 1992 to 2017
$45.4M
Translational Research Support CoreP30ES025128 · NIEHS · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI Andrew R. Binder · 2015 to 2026
$18.3M
Develop quantile analysis tools for sequencing and eQTL studiesR01HG008980 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WEI, YING · 2016 to 2019
$1.6M
Systems approaches to link tissue-specific expression to diseaseR01MH101819 · NIMH · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI NOBEL, ANDREW B, WRIGHT, FRED A. · 2013 to 2015
$1.3M
Multi-tissue and network models for next-generation EQTL studiesR01HG009125 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NOBEL, ANDREW B, WRIGHT, FRED A. · 2016 to 2018
$1.1M
FACILITATING GTEx, DISEASE, AND GxE ANALYSES VIA FAST EXPRESSION (e)QTL MAPPINGR01MH090936 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NOBEL, ANDREW B, RUSYN, IVAN · 2010 to 2012
$847k
Division of Mathematical Sciences 1613072NHGRI NIH HHS R01 HG008980NHGRI NIH HHS R01HG008980NHGRI NIH HHS R01 HG009125NIEHS NIH HHS P30 ES025128NIEHS NIH HHS P30ES025128NIEHS NIH HHS P42 ES005948NIEHS NIH HHS P42ES005948NIH HHS R01HG009125NIMH NIH HHS R01 MH090936NIMH NIH HHS R01MH090936NIMH NIH HHS R01 MH101819NIMH NIH HHS R01MH101819
6 · The paper itself

Abstract

backgroundExpression quantitative trait loci (eQTL) analysis identifies genetic markers associated with the expression of a gene. Most existing eQTL analyses and methods investigate association in a single, readily available tissue, such as blood. Joint analysis of eQTL in multiple tissues has the potential to improve, and expand the scope of, single-tissue analyses. Large-scale collaborative efforts such as the Genotype-Tissue Expression (GTEx) program are currently generating high quality data in a large number of tissues. However, computational constraints limit genome-wide multi-tissue eQTL analysis.

resultsWe develop an integrative method under a hierarchical Bayesian framework for eQTL analysis in a large number of tissues. The model fitting procedure is highly scalable, and the computing time is a polynomial function of the number of tissues. Multi-tissue eQTLs are identified through a local false discovery rate approach, which rigorously controls the false discovery rate. Using simulation and GTEx real data studies, we show that the proposed method has superior performance to existing methods in terms of computing time and the power of eQTL discovery.

conclusionsWe provide a scalable method for eQTL analysis in a large number of tissues. The method enables the identification of eQTL with different configurations and facilitates the characterization of tissue specificity.

Indexed as

Gene Expression RegulationAlgorithmsBayes TheoremComputer SimulationGenome-Wide Association StudyGenotypeHumansOrgan SpecificityPolymorphism, Single NucleotideQuantitative Trait LociROC CurveEmpirical BayesExpression quantitative trait lociGenotype-tissue expression projectLocal false discovery rateTissue specific

Identifiers

PMID29523079
PMCPMC5845327

What OpenQuestion holds

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LicenceCC BY
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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.