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

TitleA web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications.
Publication TypeJournal Article
Year of Publication2014
AuthorsAlemán A, Garcia-Garcia F, Medina I, Dopazo J
Journal TitleNucleic acids research
Volume42
PagesW83-W87
Journal Date2014 May 26
ISSN1362-4962
KeywordsDiagnostic, Targeted enrichment sequencing, WES
AbstractDisease 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.
URLhttp://nar.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=24861626
DOI10.1093/nar/gku472
Alternate JournalNucleic Acids Res.