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http://hdl.handle.net/2445/125834
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DC Field | Value | Language |
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dc.contributor.author | Feliubadaló i Elorza, Maria Lídia | - |
dc.contributor.author | Tonda, Raul | - |
dc.contributor.author | Gausachs Romero, Mireia | - |
dc.contributor.author | Trotta, Jean Rémi | - |
dc.contributor.author | Castellanos, Elisabeth | - |
dc.contributor.author | López Dóriga Guerra, Adriana | - |
dc.contributor.author | Teulé-Vega, Àlex | - |
dc.contributor.author | Tornero, Eva | - |
dc.contributor.author | Valle Domínguez, Jesús del | - |
dc.contributor.author | Gel, Bernat | - |
dc.contributor.author | Gut, Marta | - |
dc.contributor.author | Pineda Riu, Marta | - |
dc.contributor.author | González, Sara | - |
dc.contributor.author | Menéndez Vilà, Mireia | - |
dc.contributor.author | Navarro, Matilde | - |
dc.contributor.author | Capellá, G. (Gabriel) | - |
dc.contributor.author | Gut, Ivo G. | - |
dc.contributor.author | Serra Arenas, Eduard | - |
dc.contributor.author | Brunet, Joan | - |
dc.contributor.author | Beltran i Agulló, Sergi | - |
dc.contributor.author | Lázaro García, Conxi | - |
dc.date.accessioned | 2018-11-05T11:25:16Z | - |
dc.date.available | 2018-11-05T11:25:16Z | - |
dc.date.issued | 2017-01-04 | - |
dc.identifier.issn | 2045-2322 | - |
dc.identifier.uri | http://hdl.handle.net/2445/125834 | - |
dc.description.abstract | Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eightythree genes were targeted by the two panels and exome sequencing. More than 99% of bases had a read depth of over 30x in the panels, whereas exome sequencing covered 94%. Variant calling with standard settings identified the 10 mutations in the control set, with the exception of MSH6 c.255dupC using TruSight Cancer. In the discovery set, 240 unique non-silent coding and canonic splice-site variants were identified in the panel genes, 7 of them putatively pathogenic (in ATM, BARD1, CHEK2, ERCC3, FANCL, FANCM, MSH2). The three approaches identified a similar number of variants in the shared genes. Exomes were more expensive than panels but provided additional data. In terms of cost and depth, panels are a suitable option for genetic diagnostics, although exomes also identify variants in non-targeted genes. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/srep37984 | - |
dc.relation.ispartof | Scientific Reports, 2017, num. 7, p. 37984 | - |
dc.relation.uri | https://doi.org/10.1038/srep37984 | - |
dc.rights | cc-by (c) Feliubadaló i Elorza, Maria Lídia et al., 2017 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Ciències Clíniques) | - |
dc.subject.classification | Càncer | - |
dc.subject.classification | Malalties hereditàries | - |
dc.subject.classification | Diagnòstic | - |
dc.subject.classification | Cribratge genètic | - |
dc.subject.other | Cancer | - |
dc.subject.other | Genetic diseases | - |
dc.subject.other | Diagnosis | - |
dc.subject.other | Genetic screening | - |
dc.title | Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 676151 | - |
dc.date.updated | 2018-11-05T11:25:16Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 28050010 | - |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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File | Description | Size | Format | |
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676151.pdf | 1.38 MB | Adobe PDF | View/Open |
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