matchbox: An open-source tool for patient matching via the Matchmaker Exchange

Area of Science:

• Genomics and Bioinformatics
• Rare Disease Research
• Computational Biology

Background:

• Identifying rare disease cases for gene-disease causality is challenging.
• The Matchmaker Exchange (MME) facilitates patient matching across genomic centers.
• Scaling MME participation is hindered by a lack of user-friendly integration solutions.

Purpose of the Study:

• To introduce matchbox, an open-source solution for connecting rare disease genomic centers to the MME.
• To reduce the technical barriers for new databases to join the MME network.
• To facilitate gene discovery through automated patient case matching.

Main Methods:

• Development of matchbox as a portable, platform-independent bridge.
• Integration of matchbox with existing rare disease genomic databases.
• Utilizing the Matchmaker Exchange (MME) federated network for patient data exchange.

Main Results:

• Matchbox successfully connects rare disease genomic centers to the MME.
• The tool has already contributed to novel gene discoveries.
• Matchbox significantly lowers the barrier for new databases to participate in MME.

Conclusions:

• Matchbox is an effective solution for expanding the Matchmaker Exchange network.
• The tool democratizes access to rare disease case-matching capabilities.
• Matchbox accelerates the process of establishing gene-disease causality in rare conditions.