Evidence map›Paper›PMID 35286297›Full record

ArticlePLoS genetics2022

eQTL mapping using allele-specific count data is computationally feasible, powerful, and provides individual-specific estimates of genetic effects.

Vasyl Zhabotynsky, Licai Huang, Paul Little, Yi-Juan Hu, Fernando Pardo-Manuel de Villena, Fei Zou, Wei Sun

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
4.3field-weighted citation impact, top 5% 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

14 citing papers in PubMed, 23 citations in OpenAlex.

  1. 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
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  5. Review
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  7. eQTL studies: from bulk tissues to single cells.Journal of genetics and genomics = Yi chuan xue bao · 2023
    Review
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  14. Review
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

7 authors at 4 institutions in 1 country.

Vasyl ZhabotynskyDepartment of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America.ORCID 0000-0003-1575-5732
Licai HuangQuantitative Sciences Program, The University of Texas MD Anderson Cancer Center and UTHealth Graduate School of Biomedical Sciences, Houston, Texas, United States of America.ORCID 0000-0002-5087-9661
Paul LittlePublic Health Science Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.ORCID 0000-0002-9789-8501
Yi-Juan HuDepartment of Biostatistics and Bioinformatics, Emory University, Atlanta, Georgia, United States of America.ORCID 0000-0003-2171-9041
Fernando Pardo-Manuel de VillenaDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, United States of America.ORCID 0000-0002-5738-5795
Fei ZouDepartment of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America.ORCID 0000-0002-6637-3593
Wei SunDepartment of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America.ORCID 0000-0002-6350-1107
University of North Carolina at Chapel Hill · USEmory University · USFred Hutch Cancer Center · USThe University of Texas MD Anderson Cancer Center · US

Funding

Biostatstics for Research in Environmental HealthT32ES007018 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel, Rebecca Fry · 1985 to 2026
$31.3M
The UNC Chapel Hill Superfund Research Program (UNC-SRP)P42ES031007 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Rebecca Fry · 2020 to 2026
$22.2M
Statistical Methods for RNA-seq Data AnalysisR01GM105785 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Wei Sun · 2014 to 2026
$4.6M
Association Tests of Rare Variants Using Sequence Reads without Calling GenotypesR01GM116065 · NIGMS · EMORY UNIVERSITY · PI HU, YIJUAN · 2015 to 2019
$1.5M
Novel Statistical Methods for Analyzing Complex Microbiome DataR01GM141074 · NIGMS · EMORY UNIVERSITY · PI SU, CHANG · 2021 to 2024
$1.2M
NIEHS NIH HHS P42 ES031007NIEHS NIH HHS T32 ES007018NIGMS NIH HHS R01 GM105785NIGMS NIH HHS R01 GM116065NIGMS NIH HHS R01 GM141074
6 · The paper itself

Abstract

Using information from allele-specific gene expression (ASE) can improve the power to map gene expression quantitative trait loci (eQTLs). However, such practice has been limited, partly due to computational challenges and lack of clarification on the size of power gain or new findings besides improved power. We have developed geoP, a computationally efficient method to estimate permutation p-values, which makes it computationally feasible to perform eQTL mapping with ASE counts for large cohorts. We have applied geoP to map eQTLs in 28 human tissues using the data from the Genotype-Tissue Expression (GTEx) project. We demonstrate that using ASE data not only substantially improve the power to detect eQTLs, but also allow us to quantify individual-specific genetic effects, which can be used to study the variation of eQTL effect sizes with respect to other covariates. We also compared two popular methods for eQTL mapping with ASE: TReCASE and RASQUAL. TReCASE is ten times or more faster than RASQUAL and it provides more robust type I error control.

Indexed as

Quantitative Trait LociAllelesHumans

Identifiers

PMID35286297
PMCPMC8947591
OpenAlexW4220738716

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.