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A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications

Disease targeted sequencing is gaining importance as a powerful and cost-effective application of high throughput sequencing technologies to the diagnosis. However, the lack of proper tools to process the data hinders its extensive adoption. Here we present TEAM, an intuitive and easy-to-use web too...

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Autores principales: Alemán, Alejandro, Garcia-Garcia, Francisco, Medina, Ignacio, Dopazo, Joaquín
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086136/
https://www.ncbi.nlm.nih.gov/pubmed/24861626
http://dx.doi.org/10.1093/nar/gku472
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author Alemán, Alejandro
Garcia-Garcia, Francisco
Medina, Ignacio
Dopazo, Joaquín
author_facet Alemán, Alejandro
Garcia-Garcia, Francisco
Medina, Ignacio
Dopazo, Joaquín
author_sort Alemán, Alejandro
collection PubMed
description Disease targeted sequencing is gaining importance as a powerful and cost-effective application of high throughput sequencing technologies to the diagnosis. However, the lack of proper tools to process the data hinders its extensive adoption. Here we present TEAM, an intuitive and easy-to-use web tool that fills the gap between the predicted mutations and the final diagnostic in targeted enrichment sequencing analysis. The tool searches for known diagnostic mutations, corresponding to a disease panel, among the predicted patient's variants. Diagnostic variants for the disease are taken from four databases of disease-related variants (HGMD-public, HUMSAVAR, ClinVar and COSMIC.) If no primary diagnostic variant is found, then a list of secondary findings that can help to establish a diagnostic is produced. TEAM also provides with an interface for the definition of and customization of panels, by means of which, genes and mutations can be added or discarded to adjust panel definitions. TEAM is freely available at: http://team.babelomics.org.
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spelling pubmed-40861362014-10-28 A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications Alemán, Alejandro Garcia-Garcia, Francisco Medina, Ignacio Dopazo, Joaquín Nucleic Acids Res Article Disease targeted sequencing is gaining importance as a powerful and cost-effective application of high throughput sequencing technologies to the diagnosis. However, the lack of proper tools to process the data hinders its extensive adoption. Here we present TEAM, an intuitive and easy-to-use web tool that fills the gap between the predicted mutations and the final diagnostic in targeted enrichment sequencing analysis. The tool searches for known diagnostic mutations, corresponding to a disease panel, among the predicted patient's variants. Diagnostic variants for the disease are taken from four databases of disease-related variants (HGMD-public, HUMSAVAR, ClinVar and COSMIC.) If no primary diagnostic variant is found, then a list of secondary findings that can help to establish a diagnostic is produced. TEAM also provides with an interface for the definition of and customization of panels, by means of which, genes and mutations can be added or discarded to adjust panel definitions. TEAM is freely available at: http://team.babelomics.org. Oxford University Press 2014-07-01 2014-05-26 /pmc/articles/PMC4086136/ /pubmed/24861626 http://dx.doi.org/10.1093/nar/gku472 Text en © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Article
Alemán, Alejandro
Garcia-Garcia, Francisco
Medina, Ignacio
Dopazo, Joaquín
A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications
title A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications
title_full A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications
title_fullStr A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications
title_full_unstemmed A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications
title_short A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications
title_sort web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086136/
https://www.ncbi.nlm.nih.gov/pubmed/24861626
http://dx.doi.org/10.1093/nar/gku472
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