Evidence map›Paper›PMID 20546565›Full record

ArticleBMC bioinformatics2010

CONAN: copy number variation analysis software for genome-wide association studies.

Lukas Forer, Sebastian Schönherr, Hansi Weissensteiner, Florian Haider, Thomas Kluckner, Christian Gieger, Heinz-Erich Wichmann, Günther Specht, Florian Kronenberg, Anita Kloss-Brandstätter

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Article in BMC bioinformatics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

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18citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

18 citing papers in PubMed.

  1. Review
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  4. Harnessing big data for enhanced genome-wide prediction in winter wheat breeding.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2025
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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Lukas ForerDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, 6020 Innsbruck, Austria.
Sebastian Schönherr
Hansi Weissensteiner
Florian Haider
Thomas Kluckner
Christian Gieger
Heinz-Erich Wichmann
Günther Specht
Florian Kronenberg
Anita Kloss-Brandstätter

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWAS) based on single nucleotide polymorphisms (SNPs) revolutionized our perception of the genetic regulation of complex traits and diseases. Copy number variations (CNVs) promise to shed additional light on the genetic basis of monogenic as well as complex diseases and phenotypes. Indeed, the number of detected associations between CNVs and certain phenotypes are constantly increasing. However, while several software packages support the determination of CNVs from SNP chip data, the downstream statistical inference of CNV-phenotype associations is still subject to complicated and inefficient in-house solutions, thus strongly limiting the performance of GWAS based on CNVs.

resultsCONAN is a freely available client-server software solution which provides an intuitive graphical user interface for categorizing, analyzing and associating CNVs with phenotypes. Moreover, CONAN assists the evaluation process by visualizing detected associations via Manhattan plots in order to enable a rapid identification of genome-wide significant CNV regions. Various file formats including the information on CNVs in population samples are supported as input data.

conclusionsCONAN facilitates the performance of GWAS based on CNVs and the visual analysis of calculated results. CONAN provides a rapid, valid and straightforward software solution to identify genetic variation underlying the 'missing' heritability for complex traits that remains unexplained by recent GWAS. The freely available software can be downloaded at http://genepi-conan.i-med.ac.at.

Indexed as

DNA Copy Number VariationsGenomeSoftwareGenome-Wide Association StudyGenomicsPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID20546565
PMCPMC2894823

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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.