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Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Rodrigues, Eliete da S; Griffith, Sean; Martin, Renan; Antonescu, Corina; Posey, Jennifer E; Coban-Akdemir, Zeynep; Jhangiani, Shalini N; Doheny, Kimberly F; Lupski, James R; Valle, David; Bamshad, Michael J; Hamosh, Ada; Sheffer, Assaf; Chong, Jessica X; Einhorn, Yaron; Cupak, Miro; Sobreira, Nara.
Affiliation
  • Rodrigues EDS; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Griffith S; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Martin R; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Antonescu C; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Doheny KF; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Valle D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Bamshad MJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Hamosh A; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Sheffer A; Texas Children's Hospital, Houston, Texas, USA.
  • Chong JX; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Einhorn Y; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Cupak M; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
  • Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Hum Mutat ; 43(6): 782-790, 2022 06.
Article in En | MEDLINE | ID: mdl-35191117
Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that provide variant-level information and phenotypic features to researchers, clinicians, healthcare providers and patients. Following the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, these databases have as one goal to facilitate connection to one another using Data Connect, a standard for discovery and search of biomedical data from the Global Alliance for Genomics and Health (GA4GH).
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Databases, Genetic / Information Dissemination Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Databases, Genetic / Information Dissemination Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: United States Country of publication: United States