Evidence map›Paper›PMID 31844974›Full record

ArticleHuman genetics2020

A powerful fine-mapping method for transcriptome-wide association studies.

Chong Wu, Wei Pan

Abstract read
In one paragraph

Article in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing 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

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

  1. Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
    Pooled it
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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

2 authors.

Chong WuDepartment of Statistics, Florida State University, Tallahassee, FL, USA. chongwu@stat.fsu.edu.ORCID http://orcid.org/0000-0002-8400-1785
Wei PanDivision of Biostatistics, University of Minnesota, Minneapolis, MN, USA. weip@biostat.umn.edu.ORCID http://orcid.org/0000-0002-1159-0582

Funding

Association analysis of rare variants with sequencing dataR01HL116720 · NHLBI · UNIVERSITY OF MINNESOTA · PI PAN, WEI, WEI, PENG · 2013 to 2020
$3.3M
Powerful Inference and Prediction for Genetic AssociationR01HL105397 · NHLBI · UNIVERSITY OF MINNESOTA · PI PAN, WEI, SHEN, XIAOTONG TOM · 2011 to 2018
$2.9M
Statistical Methods for Genomic DataR01GM113250 · NIGMS · UNIVERSITY OF MINNESOTA · PI PAN, WEI · 2014 to 2017
$702k
Integrating genomic and imaging endophenotypes in GWASR21AG057038 · NIA · UNIVERSITY OF MINNESOTA · PI PAN, WEI · 2017 to 2018
$405k
NHLBI NIH HHS R01 HL105397NHLBI NIH HHS R01 HL116720NIA NIH HHS R21 AG057038NIGMS NIH HHS R01 GM113250NIH HHS R01GM113250NIH HHS R01HL105397NIH HHS R01HL116720NIH HHS R21AG057038
6 · The paper itself

Abstract

Transcriptome-wide association studies (TWAS) have been recently applied to successfully identify many novel genes associated with complex traits. While appealing, TWAS tend to identify multiple significant genes per locus, and many of them may not be causal due to confounding through linkage disequilibrium (LD) among SNPs. Here we introduce a powerful fine-mapping method that prioritizes putative causal genes by accounting for local LD. We apply a weighted adaptive test with eQTL-derived weights to maintain high power across various scenarios. Through simulations, we show that our new approach yielded a well-controlled Type I error rate while achieving higher power and AUC than competing methods. We applied our approach to a schizophrenia GWAS summary dataset and successfully prioritized some well-known schizophrenia-related genes, such as C4A. Importantly, our approach identified some putative causal genes (e.g., B3GAT1 and RGS6) that were missed by competing methods and TWAS. Our results suggest that our approach is a useful tool to prioritize putative causal genes, gaining insights into the mechanisms of complex traits.

Indexed as

Genetic MarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyPolymorphism, Single NucleotideTranscriptomeCase-Control StudiesHumansLinkage DisequilibriumModels, GeneticQuantitative Trait LociSchizophreniaGenetic Markers

Identifiers

PMID31844974
PMCPMC6983348

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.