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

Publication Year: 2022

DOI:
10.1002/humu.24358

PMCID:
PMC9311682

PMID:
35192731

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

Transparency Score
5/6
83.3% Transparent
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Core Indicators
Evidence found in paper:

"demo data was used to generate this figure 4 patientmatcher is open-source and available on github ( https://github com/clinical-genomics/patientmatcher )."

Evidence found in paper:

"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."

Evidence found in paper:

"CONFLICTS OF INTEREST The authors declare no conflicts of interest."

Evidence found in paper:

"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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Open Access
Paper is freely available to read
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Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025