genepanel.iobio

genepanel.iobio generates comprehensive gene lists of disease- and phenotype-associated genes by aggregating curated gene:disease association resources to support variant prioritization in exome and genome sequencing.

Key Features:

• Integration of Multiple Resources: Aggregates data from the NCBI Genetic Testing Registry (GTR), Phenolyzer, and the Human Phenotype Ontology (HPO) to compile gene:disease associations.
• Aggregate gene:disease association generation: Combines curated resources to produce comprehensive, phenotype-driven gene lists for genetic analyses.
• Support for sequencing studies: Produces gene lists intended to inform variant prioritization in exome and genome sequencing workflows.

Scientific Applications:

• Ordering genetic tests: Provides comprehensive gene lists to inform selection of genes for diagnostic genetic testing.
• Variant prioritization: Supports prioritization of candidate variants in exome and genome sequencing analyses.
• Diagnostic gene identification: Aided identification of diagnostic genes in challenging clinical cases, prioritizing the correct gene containing diagnostic variants in approximately half of such instances.

Methodology:

Aggregates and combines data from multiple curated gene:disease association resources (including GTR, Phenolyzer, and HPO) to generate gene:disease association lists.