Published March 7, 2022 | Version 3.2
Journal article Open

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Authors/Creators

  • 1. Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institute, Stockholm, Sweden
  • 2. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
  • 3. Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden
  • 4. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

Description

PatientMatcher (https://github.com/Clinical-Genomics/patientMatcher) is an open-source Python and MongoDB-based software solution developed by Clinical Genomics facility at the Science for Life Laboratory in Stockholm. PatientMatcher is designed as a standalone Matchmaker Exchange server, but can easily communicate via REST API with external applications managing genetic analyses and patient data.

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Human_Mutation-2022-Rasi-PatientMatcher.pdf

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