Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 6
Results: 17
Cover, Volume 43, Issue 6.
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- Human Mutation, 2022, v. 43, n. 6, p. i, doi. 10.1002/humu.24401
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Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
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- Human Mutation, 2022, v. 43, n. 6, p. 659, doi. 10.1002/humu.24373
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Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.
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- Human Mutation, 2022, v. 43, n. 6, p. 791, doi. 10.1002/humu.24369
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seqr: A web‐based analysis and collaboration tool for rare disease genomics.
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- Human Mutation, 2022, v. 43, n. 6, p. 698, doi. 10.1002/humu.24366
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ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
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- Human Mutation, 2022, v. 43, n. 6, p. 743, doi. 10.1002/humu.24364
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Variant‐level matching for diagnosis and discovery: Challenges and opportunities.
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- Human Mutation, 2022, v. 43, n. 6, p. 782, doi. 10.1002/humu.24359
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PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
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- Human Mutation, 2022, v. 43, n. 6, p. 708, doi. 10.1002/humu.24358
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A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships.
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- Human Mutation, 2022, v. 43, n. 6, p. 765, doi. 10.1002/humu.24356
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Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery.
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- Human Mutation, 2022, v. 43, n. 6, p. 800, doi. 10.1002/humu.24354
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The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
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- Human Mutation, 2022, v. 43, n. 6, p. 717, doi. 10.1002/humu.24353
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Discovery of over 200 new and expanded genetic conditions using GeneMatcher.
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- Human Mutation, 2022, v. 43, n. 6, p. 760, doi. 10.1002/humu.24351
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The impact of GeneMatcher on international data sharing and collaboration.
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- Human Mutation, 2022, v. 43, n. 6, p. 668, doi. 10.1002/humu.24350
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PhenomeCentral: 7 years of rare disease matchmaking.
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- Human Mutation, 2022, v. 43, n. 6, p. 674, doi. 10.1002/humu.24348
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Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
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- Human Mutation, 2022, v. 43, n. 6, p. 772, doi. 10.1002/humu.24342
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Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm.
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- Human Mutation, 2022, v. 43, n. 6, p. 734, doi. 10.1002/humu.24341
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DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research.
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- Human Mutation, 2022, v. 43, n. 6, p. 682, doi. 10.1002/humu.24340
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Issue Information.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 655, doi. 10.1002/humu.24228
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- Article