TEAM

TEAM facilitates design, management, and analysis of gene panels for targeted enrichment and massive sequencing to identify diagnostic genetic variants in clinical settings.

Key Features:

• Disease Panel Customization: Defines and customizes gene panels by adding or removing genes and mutations for targeted sequencing panels.
• Database Integration: Integrates predicted variants with HGMD-public, HUMSAVAR, ClinVar, and COSMIC to search for known disease-related variants.
• Diagnostic Variant Identification: Identifies primary diagnostic variants associated with specific diseases and, when none are found, produces a list of secondary findings that may contribute to diagnosis.
• Prediction-to-Diagnosis Linking: Links predicted genetic mutations to diagnostic implications to support interpretation of targeted sequencing results.
• Application to Targeted Sequencing: Operates on data from targeted enrichment and massive sequencing workflows used in clinical diagnostics.

Scientific Applications:

• Clinical diagnostics: Supports identification of disease-related mutations from targeted sequencing data for molecular diagnosis.
• Personalized medicine: Enables interpretation of patient-specific genetic profiles to inform clinical decision-making.
• Diagnostic panel design: Guides construction and refinement of gene panels for targeted enrichment assays.

Methodology:

Integrates predictive variant analysis with curated databases (HGMD-public, HUMSAVAR, ClinVar, COSMIC) to identify primary diagnostic variants and, if absent, generate secondary findings, and supports modification of gene panel definitions.