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Variant-level Matching Tools
  • +14
  • Eliete Rodrigues,
  • Sean Griffith,
  • Renan Martin,
  • Corina Antonescu,
  • Jennifer Posey,
  • Zeynep Coban-Akdemir,
  • Shalini Jhangiani,
  • Kim Doheny,
  • James R. Lupski,
  • David Valle,
  • Michael Bamshad,
  • Ada Hamosh,
  • Assaf Sheffer,
  • Jessica Chong,
  • Yaron Einhorn,
  • Miro Cupak,
  • Nara Sobreira
Eliete Rodrigues
Johns Hopkins University School of Medicine

Corresponding Author:[email protected]

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Sean Griffith
Johns Hopkins University School of Medicine
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Renan Martin
Johns Hopkins University School of Medicine
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Corina Antonescu
Johns Hopkins University School of Medicine
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Jennifer Posey
Baylor College of Medicine
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Zeynep Coban-Akdemir
Baylor College of Medicine
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Shalini Jhangiani
Baylor College of Medicine
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Kim Doheny
Johns Hopkins School of Medicine
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James R. Lupski
Baylor College of Medicine
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David Valle
Johns Hopkins
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Michael Bamshad
University of Washington
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Ada Hamosh
Johns Hopkins University
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Assaf Sheffer
Franklin by Genoox
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Jessica Chong
University of Washington
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Yaron Einhorn
Franklin by Genoox
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Miro Cupak
DNAstack
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Nara Sobreira
Johns Hopkins University School of Medicine
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Abstract

Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that have made variant-level information together with phenotype or phenotypic features available to researchers, clinicians, health care providers and patients. Following in the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, these databases plan to connect to each other using Data Connect, a standard for discovery and search of biomedical data from the Global Alliance for Genomics and Health (GA4GH).
08 Nov 2021Submitted to Human Mutation
09 Nov 2021Submission Checks Completed
09 Nov 2021Assigned to Editor
09 Nov 2021Reviewer(s) Assigned
24 Nov 2021Review(s) Completed, Editorial Evaluation Pending
03 Dec 2021Editorial Decision: Revise Major
15 Feb 20221st Revision Received
16 Feb 2022Submission Checks Completed
16 Feb 2022Assigned to Editor
16 Feb 2022Review(s) Completed, Editorial Evaluation Pending
18 Feb 2022Editorial Decision: Accept