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dc.contributor.authorLópez Dóriga, Adriana
dc.contributor.authorFeliubadalo, Lidia
dc.contributor.authorMenendez, Maria Dolores
dc.contributor.authorLopez Doriga, Sergio
dc.contributor.authorMorón Duran, Francisco D.
dc.contributor.authordel Valle, Jesús
dc.contributor.authorTornero, Eva
dc.contributor.authorMontes, Eva
dc.contributor.authorCuesta, Raquel
dc.contributor.authorCampos, Olga
dc.contributor.authorGómez, Carolina
dc.contributor.authorPineda, Marta
dc.contributor.authorGonzález, Sara
dc.contributor.authorMoreno, Victor
dc.contributor.authorCapellá Frau, Gabriel José
dc.contributor.authorLázaro, Conxi
dc.contributor.otherUniversitat Politècnica de Catalunya. Departament d'Enginyeria Electrònica
dc.identifier.citationLópez-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.description.abstractNext-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.extent7 p.
dc.subjectÀrees temàtiques de la UPC::Ciències de la salut::Medicina
dc.subjectÀrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
dc.subject.lcshMutation (Biology)
dc.subject.lcshCancer--Genetic aspects
dc.subject.othernext generation sequencing
dc.subject.othermutation analysis
dc.subject.otherbioinformatic analysis
dc.subject.othervariant identification
dc.subject.otherhereditary cancer
dc.titleICO 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.subject.lemacMutació (Biologia)
dc.subject.lemacCàncer--Aspectes genètics
dc.contributor.groupUniversitat Politècnica de Catalunya. TIEG - Terrassa Industrial Electronics Group
dc.description.peerreviewedPeer Reviewed
dc.rights.accessRestricted access - publisher's policy
dc.description.versionPostprint (published version)
local.citation.authorLópez-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.publicationNameHuman mutation

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