PatientMatcher

PatientMatcher matches undiagnosed rare disease patients by comparing genotypic and phenotypic data across the MatchMaker Exchange (MME) network to support discovery of genotype-phenotype relationships.

Key Features:

• Python and MongoDB-based architecture: Uses Python together with MongoDB to store, query, and manage genomic and phenotypic datasets.
• MatchMaker Exchange (MME) integration: Operates as a standalone MME server to exchange patient records and perform cross-institutional matching via the MME network.
• REST API: Provides a REST API for communication with external applications managing genetic analyses and patient data.
• Customizable similarity scoring: Supports implementation of custom similarity score algorithms to adapt matching metrics for genotype and phenotype comparisons.
• Match result notification controls: Offers configurable options for how matching results are notified to downstream systems or stakeholders.

Scientific Applications:

• Rare disease matchmaking: Facilitates identification of matching cases across institutions to aid diagnosis of undiagnosed rare genetic disorders.
• Genotype-phenotype causality resolution: Enables aggregation of matches to support establishment of genotype-phenotype relationships in rare genetic diseases.

Methodology:

Implements the MME API and collects and compares patient data from various sources, using algorithms to identify potential matches based on genetic and phenotypic similarities.