RD-Connect Genome-Phenome Analysis Platform (GPAP)

RD-Connect Genome-Phenome Analysis Platform (GPAP) integrates genomic and phenotypic data to support molecular diagnosis and gene discovery in rare disease research.

Key Features:

• Next-generation sequencing support: Supports analysis of raw next-generation sequencing data from exome and genome sequencing for molecular diagnosis.
• Phenotype encoding: Accepts pseudonymized phenotypic profiles encoded using the Human Phenotype Ontology (HPO).
• Standardized processing pipeline: Processes raw genomic data through a standardized pipeline.
• Data integration: Integrates genomic data with clinical registries, biobanks, biomaterial availability records, bioinformatics tools, and research/trial datasets at individual-patient and cohort levels.
• Data sharing with embargo option: Enables controlled data sharing with an optional embargo period before data become accessible to other authorized users.
• Case matching and discovery: Performs case matching and bidirectional discovery of analogous cases across the Matchmaker Exchange network.
• Collation and analysis of standardized genome-phenome data: Collates, standardizes, and supports analysis of genome-phenome datasets to aid discovery and diagnosis.
• Secure cross-institutional comparison: Facilitates cross-institutional comparison of genome-phenome data under secure authorization procedures.

Scientific Applications:

• Molecular diagnosis: Identification of molecular causes in rare disease patients using exome and genome sequencing data.
• Gene discovery: Discovery of novel disease-causing genes through integrated genome-phenome analyses and case aggregation.
• Case matching across resources: Matching and aggregation of similar cases across databases and the Matchmaker Exchange to support diagnosis of complex cases.
• Cohort-level genotype-phenotype studies: Integrated cohort analyses linking genomic data with registries, biobanks, biomaterial availability, and research/trial datasets.

Methodology:

Pseudonymized phenotypic profiles encoded with the Human Phenotype Ontology and raw genomic data are processed through a standardized pipeline; data are collated and integrated with clinical registries, biobanks, biomaterial and research/trial datasets, and case discovery is performed including bidirectional queries via the Matchmaker Exchange.