Evidence map›Paper›PMID 30850848›Full record

ArticleBioinformatics (Oxford, England)2019

Integration of methylation QTL and enhancer-target gene maps with schizophrenia GWAS summary results identifies novel genes.

Chong Wu, Wei Pan

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
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  6. Review
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  8. An integrative multiomics analysis identifies putative causal genes for COVID-19 severity.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
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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.
Wei PanDivision of Biostatistics, University of Minnesota, Minneapolis, MN, USA.

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
Estimation and Inference of Gene Regulatory NetworksR01GM126002 · NIGMS · UNIVERSITY OF MINNESOTA · PI PAN, WEI, SHEN, XIAOTONG TOM · 2017 to 2020
$1.4M
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 GM113250NIGMS NIH HHS R01 GM126002
6 · The paper itself

Abstract

motivationMost trait-associated genetic variants identified in genome-wide association studies (GWASs) are located in non-coding regions of the genome and thought to act through their regulatory roles.

resultsTo account for enriched association signals in DNA regulatory elements, we propose a novel and general gene-based association testing strategy that integrates enhancer-target gene pairs and methylation quantitative trait locus data with GWAS summary results; it aims to both boost statistical power for new discoveries and enhance mechanistic interpretability of any new discovery. By reanalyzing two large-scale schizophrenia GWAS summary datasets, we demonstrate that the proposed method could identify some significant and novel genes (containing no genome-wide significant SNPs nearby) that would have been missed by other competing approaches, including the standard and some integrative gene-based association methods, such as one incorporating enhancer-target gene pairs and one integrating expression quantitative trait loci. AVAILABILITY AND IMPLEMENTATION: Software: wuchong.org/egmethyl.html. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Genome-Wide Association StudySchizophreniaHumansMethylationPolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID30850848
PMCPMC6761938

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.