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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-35191117
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bases de Datos Genéticas / Difusión de la Información Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bases de Datos Genéticas / Difusión de la Información Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos