From 2c4c21bb5a237e1f1c00edc265355044599d5103 Mon Sep 17 00:00:00 2001 From: Jan Siwiec <jan.siwiec@vsb.cz> Date: Thu, 12 Mar 2020 14:27:04 +0100 Subject: [PATCH] Update diagnostic-component-team.md --- .../software/bio/omics-master/diagnostic-component-team.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs.it4i/software/bio/omics-master/diagnostic-component-team.md b/docs.it4i/software/bio/omics-master/diagnostic-component-team.md index 375a54fbd..203019276 100644 --- a/docs.it4i/software/bio/omics-master/diagnostic-component-team.md +++ b/docs.it4i/software/bio/omics-master/diagnostic-component-team.md @@ -9,7 +9,7 @@ TEAM is available at the [following address][a] ## Diagnostic Component -VCF files are scanned by this diagnostic tool for known diagnostic disease-associated variants. When no diagnostic mutation is found, the file can be sent to the disease-causing gene discovery tool to see whether new disease associated variants can be found. +VCF files are scanned by this diagnostic tool for known diagnostic disease-associated variants. When no diagnostic mutation is found, the file can be sent to the disease-causing gene discovery tool to see whether new disease-associated variants can be found. TEAM (27) is 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, 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. -- GitLab