PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"demo data was used to generate this figure 4 patientmatcher is open-source and available on github ( https://github com/clinical-genomics/patientmatcher )."
"the original algorithm used for creating the phenotype ontology and comparing the patients in patientmatcher is available in the patient-similarity package ( https://github com/buske/patient-similarity ).; demo data was used to generate this figure 4 patientmatcher is open-source and available on github ( https://github com/clinical-genomics/patientmatcher ).; this file is available under the "/containers" folder in the github page of the patientmatcher software."
"CONFLICTS OF INTEREST The authors declare no conflicts of interest."
"We acknowledge the support of the BigMed project funded by the Norwegian Research Council and of the Genomic Medicine Sweden initiative funded by the Swedish Innovation Agency (Vinnova) both of which have financially contributed to the development of PatientMatcher. This study was supported by the BIGMED grant from the Norwegian Research Council."
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Last Updated: Aug 05, 2025