The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

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http://www.wikidata.org/entity/Q28603410
The Human Phenotype Ontology in 2017The Matchmaker Exchange: a platform for rare disease gene discoveryCafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesUse of model organism and disease databases to support matchmaking for human disease gene discovery.Building the foundation for genomics in precision medicine.International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases."Matching" consent to purpose: The example of the Matchmaker Exchange.Patient Similarity: Emerging Concepts in Systems and Precision Medicine.Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Matchmaker Exchange.The role of the clinician in the multi-omics era: are you ready?AnoniMME: bringing anonymity to the Matchmaker Exchange platform for rare disease gene discovery.PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases
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The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

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http://www.wikidata.org/entity/Q28603410
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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The Matchmaker Exchange API: a ...... notypic and genotypic profiles
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