genepanel

genepanel generates gene lists associated with specific diseases and phenotypes by aggregating gene:disease association data to support variant prioritization and genetic test selection.

Key Features:

• Integration of multiple resources: Aggregates data from gene:disease association databases including NCBI Genetic Testing Registry (GTR), Phenolyzer, and the Human Phenotype Ontology (HPO).
• Phenotype-driven gene list generation: Produces candidate gene lists based on input disease or phenotype terms derived from HPO and Phenolyzer associations.
• Variant prioritization support: Leverages aggregated gene:disease associations to prioritize diagnostic variants identified in exome and genome sequencing studies.
• Curated candidate gene sets for testing: Generates gene lists intended to inform selection of genes for genetic testing panels and diagnostic evaluation.

Scientific Applications:

• Ordering genetic tests: Provides curated lists of candidate genes linked to specific phenotypes to inform selection of genetic tests.
• Variant triage in sequencing studies: Assists in prioritizing and triaging variants from exome and genome sequencing for diagnostic interpretation.

Methodology:

Combines and aggregates information from gene:disease association databases, specifically NCBI Genetic Testing Registry (GTR), Phenolyzer, and the Human Phenotype Ontology (HPO), to produce phenotype-associated candidate gene lists.