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Web tool for automated diagnosis using targeted resequencing

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Overview

TEAM is a web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications developed by the BiER (the Team of BioInformatic for Rare Diseases). 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. TEAM is an intuitive and easy-to-use web tool that bridges 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 uses the panel definitions of Genomics England PanelApp

Documentation

You can find TEAM documentation and tutorials at: https://github.com/babelomics/team/wiki.

How to cite TEAM

Alemán A, Garcia-Garcia F, Medina I, Dopazo J. A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications. Nucleic Acids Res. 2014 Jul;42(Web Server issue):W83-7. doi: 10.1093/nar/gku472 PubMed NAR PMC

Issue Tracking

You can report bugs or request new features at GitHub issue tracking.

Release Notes and Roadmap

Releases notes are available at GitHub releases.

Roadmap is available at GitHub milestones. You can report bugs or request new features at GitHub issue tracking.

Versioning

TEAM is versioned following the rules from Semantic versioning.

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Web tool for automated diagnosis using targeted resequencing

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