DSpace Repository

Identification of chromosomal rearrangements in colorectal cancer

Show simple item record

dc.contributor Universitat de Vic - Universitat Central de Catalunya. Facultat de Ciències i Tecnologia
dc.contributor Universitat de Vic - Universitat Central de Catalunya. Màster Universitari en Anàlisi de Dades Òmiques
dc.contributor.author Moratalla Navarro, Ferran
dc.date.accessioned 2016-03-03T10:51:36Z
dc.date.available 2016-03-03T10:51:36Z
dc.date.created 2015-09
dc.date.issued 2015-09
dc.identifier.uri http://hdl.handle.net/10854/4444
dc.description Curs 2014-2015 ca_ES
dc.description.abstract Cancer research is continuously shedding light into these worldwide leading diseases. It is mandatory to have higher knowledge in cancer biology to consequently find out new candidate biomarkers and therapeutics. Among all of them, Colorectal cancer is the most commonly seen of human malignant cancers and has the third highest mortality rate[1]. Since the release of the first human genome sequence in 2004, new techniques have revolutionised the study of genetics and its possible applications. A broad type of studies has been carried out; being Single Nucleotide Polymorphisms and Copy Number Variants the most intensively studied analysis. However, other kinds of mutations involving larger parts of the genome, the so-called structural variants, have been substantially less analyzed due to technical limitations. High-throughput sequencing methods seem to have lowered these restrictions. In this study, gene fusions have been searched in whole exome sequencing samples taking 42 paired normal and cancer tissues. Beginning with short-read files obtained with the mentioned method, they have been aligned against a reference genome to later be analyzed with Breakdancer, a structural variant calling algorithm. After some filtering criteria performed in order to remove a high proportion of false positives, a highly probable list of 22 balanced structural variants (translocations and/or inversions) has been manually studied to get a final result of 20 chromosomal rearrangements, 8 of which are considered gene fusions. In addition, it has been found that one recurrent translocation seen in recent studies is indeed a false positive. Further studies taking into account these results may contribute to the findings of new biomarkers for certain subtypes of colorectal cancer. ca_ES
dc.format application/pdf
dc.format.extent 45 p. ca_ES
dc.language.iso eng ca_ES
dc.rights Aquest document està subjecte a aquesta llicència Creative Commons ca_ES
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/3.0/es/ ca_ES
dc.subject.other Còlon -- Càncer ca_ES
dc.subject.other Gens del càncer ca_ES
dc.title Identification of chromosomal rearrangements in colorectal cancer ca_ES
dc.type info:eu-repo/semantics/masterThesis ca_ES
dc.description.version Director/a: Victor Moreno, co-director: Mireia Olivella
dc.rights.accesRights info:eu-repo/semantics/openAccess ca_ES

Files in this item

Show simple item record

Aquest document està subjecte a aquesta llicència Creative Commons Except where otherwise noted, this item's license is described as Aquest document està subjecte a aquesta llicència Creative Commons

Search RIUVic


Advanced Search

Browse

Statistics