Evidence map›Paper›PMID 32912332›Full record

ArticleGenome biology2020

A vast resource of allelic expression data spanning human tissues.

Stephane E Castel, François Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G Ardlie, Tuuli Lappalainen

Abstract readComparative Study
In one paragraph

Article in Genome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed
–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

77 citing papers in PubMed.

  1. Article
  2. Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Article
  3. Article
  4. Atlas of glomerular disease-specific genetic effects on blood transcriptome.medRxiv : the preprint server for health sciences · 2026
    Article
  5. Article
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  18. Article
  19. Review
  20. Article

17 more citing papers are in PubMed but not listed here.

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

6 authors.

Stephane E CastelNew York Genome Center, New York, NY, USA. scastel@nygenome.org.ORCID 0000-0002-0707-2133
François AguetThe Broad Institute of MIT and Harvard, Cambridge, USA.
Pejman MohammadiNew York Genome Center, New York, NY, USA.
GTEx Consortium
Kristin G ArdlieThe Broad Institute of MIT and Harvard, Cambridge, USA.
Tuuli LappalainenNew York Genome Center, New York, NY, USA. tlappalainen@nygenome.org.

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
Scripps Translational Science InstituteUL1TR001114 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2013 to 2017
$24.0M
Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI GRAEME I BELL · 2013 to 2026
$20.9M
Statistical models for fine-mapping and interpretation of schizophrenia-associated lociR01MH106842 · NIMH · NEW YORK GENOME CENTER · PI BUSSEMAKER, HARMEN J, LAPPALAINEN, TUULI · 2015 to 2024
$5.0M
UNDERSTANDING CELLULAR AND TRANSCRIPTIONAL REGULATORY CHANGES IN HUMAN AGINGR01AG057422 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI GREALLY, JOHN, LAPPALAINEN, TUULI · 2018 to 2022
$4.5M
Methods for high-resolution analysis of genetic effects on gene expressionR01MH101814 · NIMH · UNIVERSITY OF GENEVA · PI BUSTAMANTE, CARLOS DANIEL, DERMITZAKIS, EMMANOUIL · 2013 to 2016
$2.3M
Regulatory modifiers of coding variant penetrance via haplotype epistasis in human populations and diseasesR01GM122924 · NIGMS · NEW YORK GENOME CENTER · PI LAPPALAINEN, TUULI · 2017 to 2021
$1.7M
Characterizing genetic, longitudinal, and developmental effects on the transcriptome using a novel non-invasive RNA-sequencing methodK99HG009916 · NHGRI · NEW YORK GENOME CENTER · PI CASTEL, STEPHANE EMILE · 2018 to 2018
$95k
NCATS NIH HHS UL1 TR001114NHGRI NIH HHS K99 HG009916NHGRI NIH HHS UM1 HG008901NIA NIH HHS R01 AG057422NIDDK NIH HHS P30 DK020595NIGMS NIH HHS R01 GM122924NIGMS NIH HHS R01GM122924NIH HHS 1U24DK112331NIH HHS 5UL1 TR001114-05NIH HHS UL1TR002550-01NIH HHS UM1HG008901NIMH NIH HHS R01MH101814NIMH NIH HHS R01 MH106842NIMH NIH HHS R01MH106842
6 · The paper itself

Abstract

Allele expression (AE) analysis robustly measures cis-regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from the GTEx v8 release, containing 15,253 samples spanning 54 human tissues for a total of 431 million measurements of AE at the SNP level and 153 million measurements at the haplotype level. In addition, we develop an extension of our tool phASER that allows effect sizes of cis-regulatory variants to be estimated using haplotype-level AE data. This AE resource is the largest to date, and we are able to make haplotype-level data publicly available. We anticipate that the availability of this resource will enable future studies of regulatory variation across human tissues.

Indexed as

AllelesGene ExpressionGenome, HumanHaplotypesHumansPolymorphism, Single NucleotideSequence Analysis, RNAAllelic expressionASEeQTLFunctional genomicsGenomicsGTExRegulatory variation

Identifiers

PMID32912332
PMCPMC7488534

What OpenQuestion holds

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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.