Evidence map›Paper›PMID 32118202›Full record

ArticleNAR genomics and bioinformatics2020

IGREX for quantifying the impact of genetically regulated expression on phenotypes.

Mingxuan Cai, Lin S Chen, Jin Liu, Can Yang

Abstract read
In one paragraph

Article in NAR genomics and bioinformatics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

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

  1. Pooled it
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  3. A unified framework for identification of cell-type-specific spatially variable genes in spatial transcriptomic studies.Proceedings of the National Academy of Sciences of the United States of America · 2025
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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

4 authors.

Mingxuan CaiDepartment of Mathematics, The Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong.
Lin S ChenDepartment of Public Health Sciences, The University of Chicago, IL 60637, USA.
Jin LiuCenter for Quantitative Medicine, Duke-NUS Medical School, 169856, Singapore.
Can YangDepartment of Mathematics, The Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong.

Funding

Systems Biology based Proteogenomic Translator for Cancer Marker Discovery towards Precision MedicineU24CA210993 · NCI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SCHADT, ERIC E, WANG, PEI · 2016 to 2020
$4.6M
Integrative multivariate association and genomic analysesR01GM108711 · NIGMS · UNIVERSITY OF CHICAGO · PI CHEN, LIN · 2014 to 2022
$3.1M
NCI NIH HHS U24 CA210993NIGMS NIH HHS R01 GM108711
6 · The paper itself

Abstract

By leveraging existing GWAS and eQTL resources, transcriptome-wide association studies (TWAS) have achieved many successes in identifying trait-associations of genetically regulated expression (GREX) levels. TWAS analysis relies on the shared GREX variation across GWAS and the reference eQTL data, which depends on the cellular conditions of the eQTL data. Considering the increasing availability of eQTL data from different conditions and the often unknown trait-relevant cell/tissue-types, we propose a method and tool, IGREX, for precisely quantifying the proportion of phenotypic variation attributed to the GREX component. IGREX takes as input a reference eQTL panel and individual-level or summary-level GWAS data. Using eQTL data of 48 tissue types from the GTEx project as a reference panel, we evaluated the tissue-specific IGREX impact on a wide spectrum of phenotypes. We observed strong GREX effects on immune-related protein biomarkers. By incorporating trans-eQTLs and analyzing genetically regulated alternative splicing events, we evaluated new potential directions for TWAS analysis.

Identifiers

PMID32118202
PMCPMC7034630

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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.