Copy number variations of colorectal cancer by whole exome sequencing data

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RECERCAT Home > Universitat de Vic - Universitat Central de Catalunya > Treballs de l'alumnat > Treballs de Fi de Màster > View document

To access the full text documents, please follow this link: http://hdl.handle.net/10854/3801

dc.contributor	Universitat de Vic. Escola Politècnica Superior
dc.contributor.author	Corraliza Márquez, Ana Maria
dc.date	2014-09
dc.identifier	http://hdl.handle.net/10854/3801
dc.identifier.uri	http://hdl.handle.net/10854/3801
dc.description	Curs 2013-2014
dc.description	Colorectal cancer (CRC) is the third most common cancer and the fourth leading cause of cancer death worldwide. About 85% of the cases of CRC are known to have chromosomal instability, an allelic imbalance at several chromosomal loci, and chromosome amplification and translocation. The aim of this study is to determine the recurrent copy number variant (CNV) regions present in stage II of CRC through whole exome sequencing, a rapidly developing targeted next-generation sequencing (NGS) technology that provides an accurate alternative approach for accessing genomic variations. 42 normal-tumor paired samples were sequenced by Illumina Genome Analyzer. Data was analyzed with Varscan2 and segmentation was performed with R package R-GADA. Summary of the segments across all samples was performed and the result was overlapped with DEG data of the same samples from a previous study in the group1. Major and more recurrent segments of CNV were: gain of chromosome 7pq(13%), 13q(31%) and 20q(75%) and loss of 8p(25%), 17p(23%), and 18pq(27%). This results are coincident with the known literature of CNV in CRC or other cancers, but our methodology should be validated by array comparative genomic hybridisation (aCGH) profiling, which is currently the gold standard for genetic diagnosis of CNV.
dc.description	Director/a: Victor Moreno, M. Luz Calle
dc.format	application/pdf
dc.language	eng
dc.rights	Aquest document està subjecte a aquesta llicència Creative Commons
dc.rights	http://creativecommons.org/licenses/by-nc-nd/3.0/es/
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	Còlon -- Càncer
dc.subject	Hibridació genòmica comparada
dc.title	Copy number variations of colorectal cancer by whole exome sequencing data
dc.type	info:eu-repo/semantics/masterThesis

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