PhenomeCentral

PhenomeCentral enables secure sharing and semantic matching of phenotypic and genetic case records to prioritize candidate genes from whole-exome data and support discovery of causative mutations in rare genetic disorders.

Key Features:

• Secure Data Sharing: Securely stores and shares detailed case records containing phenotypic descriptions and genetic information, including whole-exome data and candidate genes.
• Semantic Similarity Analysis: Computes semantic similarity of clinical features to identify similar patients and supports both hypothesis-free and hypothesis-driven matchmaking.
• Gene Prioritization: Automatically prioritizes genes from whole-exome data and accepts manually entered candidate genes to refine search results.
• Collaborative Networking: Connects clinicians and researchers who enter similar case records to enable follow-up investigations on promising matches.

Scientific Applications:

• Rare disease case matching and gene discovery: Matches phenotypically similar cases to aid identification of causative mutations, including cases without an existing molecular diagnosis.
• Consortia data integration: Aggregates data from projects including FORGE, Care4Rare Canada, the US NIH Undiagnosed Diseases Program, Neuromics, and ANDDIrare, encompassing over 1,000 patient records.

Methodology:

Uses semantic similarity measures between clinical features, supports hypothesis-free and hypothesis-driven matchmaking, and integrates genetic data prioritization techniques.