Evidence map›Paper›PMID 24498628›Full record

ArticleMolecular genetics & genomic medicine2014

Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease.

Sara Ballouz, Jason Y Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, Melanie Bahlo, Merridee A Wouters

Abstract read
In one paragraph

Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

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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

7 authors.

Sara BallouzStructural and Computational Biology Division, Victor Chang Cardiac Research Institute Darlinghurst, NSW, 2010, Australia ; School of Computer Science and Engineering, University of New South Wales Kensington, NSW, 2052, Australia.
Jason Y LiuStructural and Computational Biology Division, Victor Chang Cardiac Research Institute Darlinghurst, NSW, 2010, Australia.
Martin OtiCentre for Molecular and Biomolecular Informatics, Radboud University Nijmegen Medical Centre Nijmegen, The Netherlands.
Bruno GaetaSchool of Computer Science and Engineering, University of New South Wales Kensington, NSW, 2052, Australia.
Diane FatkinSchool of Medical Sciences, University of New South Wales Kensington, NSW, 2052, Australia ; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute Darlinghurst, NSW, 2010, Australia.
Melanie BahloBioinformatics Division, The Walter and Eliza Hall Institute of Medical Research Parkville, VIC, 3052, Australia.
Merridee A WoutersSchool of Medicine, Deakin University Geelong, VIC, 3217, Australia ; School of Life and Environmental Sciences, Deakin University Geelong, VIC, 3217, Australia.

Funding

Wellcome Trust 076113
6 · The paper itself

Abstract

Current single-locus-based analyses and candidate disease gene prediction methodologies used in genome-wide association studies (GWAS) do not capitalize on the wealth of the underlying genetic data, nor functional data available from molecular biology. Here, we analyzed GWAS data from the Wellcome Trust Case Control Consortium (WTCCC) on coronary artery disease (CAD). Gentrepid uses a multiple-locus-based approach, drawing on protein pathway- or domain-based data to make predictions. Known disease genes may be used as additional information (seeded method) or predictions can be based entirely on GWAS single nucleotide polymorphisms (SNPs) (ab initio method). We looked in detail at specific predictions made by Gentrepid for CAD and compared these with known genetic data and the scientific literature. Gentrepid was able to extract known disease genes from the candidate search space and predict plausible novel disease genes from both known and novel WTCCC-implicated loci. The disease gene candidates are consistent with known biological information. The results demonstrate that this computational approach is feasible and a valuable discovery tool for geneticists.

Indexed as

Candidate gene predictioncis-ruption, complex diseasescoronary artery diseasegenome-wide association studymiRNA, Wellcome Trust Case Control ConsortiumWTCCC

Identifiers

PMID24498628
PMCPMC3907915

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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.