Evidence map›Paper›PMID 29022597›Full record

ArticleNature2017

Genetic effects on gene expression across human tissues.

GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI and 17 more

Erratum issuedOpen access · hybridAbstract read
In one paragraph

Article in Nature, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2,331 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2,331citing papers in PubMed, 5 pooled it
402.5field-weighted citation impact, top 1% 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

2,331 citing papers in PubMed, 5 syntheses or guidelines pooled it, 4,587 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Pooled it
  5. Pooled it
  6. Trial
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  11. Estimating protein isoform abundances with [Formula: see text].Proceedings of the National Academy of Sciences of the United States of America · 2026
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  16. The impact for causal associations between common diseases and inflammatory bowel disease: a disease-wide bidirectional Mendelian randomization study.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026
    Article
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  20. Review

2,271 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors at 20 institutions in 12 countries.

GTEx Consortium
Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group
Statistical Methods groups—Analysis Working Group
Enhancing GTEx (eGTEx) groups
NIH Common Fund
NIH/NCI
NIH/NHGRI
NIH/NIMH
NIH/NIDA
Biospecimen Collection Source Site—NDRI
Biospecimen Collection Source Site—RPCI
Biospecimen Core Resource—VARI
Brain Bank Repository—University of Miami Brain Endowment Bank
Leidos Biomedical—Project Management
ELSI Study
Genome Browser Data Integration &Visualization—EBI
Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz
Lead analysts:
Laboratory, Data Analysis &Coordinating Center (LDACC):
NIH program management:
Biospecimen collection:
Pathology:
eQTL manuscript working group:
Alexis BattleDepartment of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.
Christopher D BrownDepartment of Genetics and Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Barbara E EngelhardtDepartment of Computer Science and Center for Statistics and Machine Learning, Princeton University, Princeton, New Jersey 08540, USA.
Stephen B MontgomeryDepartment of Genetics, Stanford University, Stanford, California 94305, USA.
Broad Institute · USStanford University · USUniversity of Geneva · CHUniversity of Chicago · USUniversitat Pompeu Fabra · ESJohns Hopkins University · USLeidos (United States) · USColumbia University Irving Medical Center · USSpecim (Finland) · FIUniversity of California, Los Angeles · USAltius Institute for Biomedical Sciences · USCentre for Human Genetics · GBPrinceton University · USRoswell Park Comprehensive Cancer Center · USUniversity of California, Santa Cruz · USVan Andel Institute · USEuropean Bioinformatics Institute · GBHuman Genome Sciences (United States) · USUniversity of Washington · USChicago Department of Public Health · US

Funding

New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6M
The UCSC Genome BrowserU41HG002371 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI KENT, WILLIAM JAMES · 2012 to 2021
$36.6M
UPenn ADCC Biomarker CoreP30AG010124 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DETRE, JOHN A · 1991 to 2020
$35.1M
INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
POSTDOCTORAL TRAINING IN MEDICAL INFORMATION SCIENCEST15LM007033 · NLM · STANFORD UNIVERSITY · PI SYLVIA KATINA PLEVRITIS · 1985 to 2026
$25.5M
Training SubprojectU54HG007990 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, PATTERSON, DAVID · 2014 to 2018
$14.8M
Clinically Relevant Genome Variation DatabaseU01HG007436 · NHGRI · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL, PLON, SHARON E. · 2013 to 2016
$10.5M
BIOMEDICAL ENGINEERING TRAINING PROGRAMT32GM007057 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI KANOLD, PATRICK O, KARCHIN, RACHEL · 1985 to 2023
$10.4M
Quantitavie and Computational Biology Graduate ProgramT32HG003284 · NHGRI · PRINCETON UNIVERSITY · PI Joshua Michael Akey, Stanislav Y. Shvartsman · 2004 to 2026
$9.9M
Computational resources for genomic interpretation of type 2 diabetesU54DK105566 · NIDDK · BROAD INSTITUTE, INC. · PI MACARTHUR, DANIEL G, NEALE, BENJAMIN MICHAEL · 2014 to 2017
$8.6M
Decoding and Reprogramming the Corticosteroid Transcriptional Regulatory NetworkU01HG007900 · NHGRI · DUKE UNIVERSITY · PI REDDY, TIMOTHY E · 2015 to 2017
$5.9M
Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2M
CCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENHGRI NIH HHS K22 HG000044NHGRI NIH HHS R00 HG006265NHGRI NIH HHS R01 HG008150NHGRI NIH HHS R01 HG009125NHGRI NIH HHS R21 HG007840NHGRI NIH HHS T32 HG000044NHGRI NIH HHS T32 HG003284NHGRI NIH HHS U01 HG007436NHGRI NIH HHS U01 HG007591NHGRI NIH HHS U01 HG007900NHGRI NIH HHS U01 HG009080NHGRI NIH HHS U41 HG002371NHGRI NIH HHS U54 HG007990NHGRI NIH HHS UM1 HG008901NHLBI NIH HHS HHSN268201000002CNHLBI NIH HHS HHSN268201000009CNHLBI NIH HHS HHSN268201000029CNIA NIH HHS P30 AG010124NIDA NIH HHS R01 DA006227NIDDK NIH HHS U54 DK105566NIGMS NIH HHS R01 GM104371NIGMS NIH HHS T32 GM007057NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH106842NIMH NIH HHS R01 MH109905NLM NIH HHS T15 LM007033Wellcome Trust
6 · The paper itself

Abstract

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease.

Indexed as

Gene Expression ProfilingGenetic VariationAllelesChromosomes, HumanDiseaseFemaleGene Expression RegulationGenome, HumanGenotypeHumansMaleOrgan SpecificityQuantitative Trait Loci

Identifiers

PMID29022597
PMCPMC5776756
OpenAlexW2761275051

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Registered trials

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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.