affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.

Home | About RECERCAT | Contact

Català | Castellano

All of RECERCAT

By Communities &
Collections By Defense Date By Authors By Titles By Subject

This Collection

By Defense Date By Authors By Titles By Subject

Statistics

View Statistics All RECERCAT

My RECERCAT

Other repositories directory

RECERCAT Home > Universitat Pompeu Fabra > Articles, congressos, llibres > View document

To access the full text documents, please follow this link: http://hdl.handle.net/10230/24848

dc.contributor.author	Hernandez-Ferrer, Carles, 1987-
dc.contributor.author	Quintela Garcia, Ines
dc.contributor.author	Danielski, Katharina
dc.contributor.author	Carracedo, Ángel
dc.contributor.author	Pérez Jurado, Luis Alberto
dc.contributor.author	González Ruiz, Juan Ramón
dc.date	2015
dc.identifier.citation	Hernandez-Ferrer C, Quintela Garcia I, Danielski K, Carracedo Á, Pérez-Jurado LA, González JR. affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling. BMC Bioinformatics. 2015 May 20;16:167. doi: 10.1186/s12859-015-0608-y.
dc.identifier.citation	1471-2105
dc.identifier.citation	http://dx.doi.org/10.1186/s12859-015-0608-y
dc.identifier.uri	http://hdl.handle.net/10230/24848
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	BioMed Central
dc.relation	info:eu-repo/grantAgreement/ES/3PN/MTM2011-26515
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	© 2015 Hernandez-Ferrer et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use,/ndistribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
dc.rights	http://creativecommons.org/licenses/by/4.0/
dc.subject	Genoma humà
dc.subject	Oligonucleòtids
dc.title	affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion
dc.description.abstract	Background:The well-known Genome-Wide Association Studies (GWAS) had led to many scientific discoveriesusing SNP data. Even so, they were not able to explain the full heritability of complex diseases. Now, other structuralvariants like copy number variants or DNA inversions, either germ-line or in mosaicism events, are being studies.We present the R packageaffy2svto pre-process Affymetrix CytoScan HD/750k array (also for Genome-WideSNP 5.0/6.0 and Axiom) in structural variant studies.Results:We illustrate the capabilities ofaffy2svusing two different complete pipelines on real data. The firstone performing a GWAS and a mosaic alterations detection study, and the other detecting CNVs and performingan inversion calling.Conclusion:Both examples presented in the article show up howaffy2svcan be used as part of more complexpipelines aimed to analyze Affymetrix SNP arrays data in genetic association studies, where different types ofstructural variants are considered.
dc.description.abstract	This work was partly supported by the Spanish Ministry of Science and Innovation (MTM2011-26515), FIS PI1002512 and a predoctoral fellowship of the Universitat Pompeu Fabra (to CH-F).

Show simple item record

All of RECERCAT

This Collection

Statistics

My RECERCAT

Related documents

Other documents of the same author