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ICO amplicon NGS data analysis: a web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS junior next-Generation Sequencing
dc.contributor.author | López Dóriga, Adriana |
dc.contributor.author | Feliubadalo, Lidia |
dc.contributor.author | Menendez, Maria Dolores |
dc.contributor.author | Lopez Doriga, Sergio |
dc.contributor.author | Morón Duran, Francisco D. |
dc.contributor.author | del Valle, Jesús |
dc.contributor.author | Tornero, Eva |
dc.contributor.author | Montes, Eva |
dc.contributor.author | Cuesta, Raquel |
dc.contributor.author | Campos, Olga |
dc.contributor.author | Gómez, Carolina |
dc.contributor.author | Pineda, Marta |
dc.contributor.author | González, Sara |
dc.contributor.author | Moreno, Victor |
dc.contributor.author | Capellá Frau, Gabriel José |
dc.contributor.author | Lázaro, Conxi |
dc.contributor.other | Universitat Politècnica de Catalunya. Departament d'Enginyeria Electrònica |
dc.date.accessioned | 2014-07-02T11:53:18Z |
dc.date.created | 2013-11-01 |
dc.date.issued | 2013-11-01 |
dc.identifier.citation | López-Dóriga, A. [et al.]. ICO amplicon NGS data analysis: a web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS junior next-Generation Sequencing. "Human mutation", 01 Novembre 2013, vol. 35, núm. 3, p. 271-277. |
dc.identifier.issn | 1059-7794 |
dc.identifier.uri | http://hdl.handle.net/2117/23387 |
dc.description.abstract | Next-generation sequencing (NGS) has revolutionized genomic research and is set to have a major impact on genetic diagnostics thanks to the advent of benchtop sequencers and flexible kits for targeted libraries. Among the main hurdles in NGS are the difficulty of performing bioinformatic analysis of the huge volume of data generated and the high number of false positive calls that could be obtained, depending on the NGS technology and the analysis pipeline. Here, we present the development of a free and user-friendly Web data analysis tool that detects and filters sequence variants, provides coverage information, and allows the user to customize some basic parameters. The tool has been developed to provide accurate genetic analysis of targeted sequencing of common high-risk hereditary cancer genes using amplicon libraries run in a GS Junior System. The Web resource is linked to our own mutation database, to assist in the clinical classification of identified variants. We believe that this tool will greatly facilitate the use of the NGS approach in routine laboratories. |
dc.format.extent | 7 p. |
dc.language.iso | eng |
dc.subject | Àrees temàtiques de la UPC::Ciències de la salut::Medicina |
dc.subject | Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica |
dc.subject.lcsh | Bioinformatics |
dc.subject.lcsh | Mutation (Biology) |
dc.subject.lcsh | Cancer--Genetic aspects |
dc.subject.other | next generation sequencing |
dc.subject.other | mutation analysis |
dc.subject.other | bioinformatic analysis |
dc.subject.other | variant identification |
dc.subject.other | hereditary cancer |
dc.subject.other | DIAGNOSIS |
dc.title | ICO amplicon NGS data analysis: a web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS junior next-Generation Sequencing |
dc.type | Article |
dc.subject.lemac | Bioinformàtica |
dc.subject.lemac | Mutació (Biologia) |
dc.subject.lemac | Càncer--Aspectes genètics |
dc.contributor.group | Universitat Politècnica de Catalunya. (TIEG) - Terrassa Industrial Electronics Group |
dc.identifier.doi | 10.1002/humu.22484 |
dc.description.peerreviewed | Peer Reviewed |
dc.rights.access | Restricted access - publisher's policy |
local.identifier.drac | 13189305 |
dc.description.version | Postprint (published version) |
dc.date.lift | 10000-01-01 |
local.citation.author | López-Dóriga, A.; Feliubadalo, L.; Menendez, M.; Lopez-Doriga, S.; Morón, F.; del Valle, J.; Tornero, E.; Montes, E.; Cuesta, R.; Campos, O.; Gómez, C.; Pineda, M.; González, S.; Moreno, V.; Capella, G.; Lázaro, C. |
local.citation.publicationName | Human mutation |
local.citation.volume | 35 |
local.citation.number | 3 |
local.citation.startingPage | 271 |
local.citation.endingPage | 277 |
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