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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
James, Regis A; Campbell, Ian M; Chen, Edward S; Boone, Philip M; Rao, Mitchell A; Bainbridge, Matthew N; Lupski, James R; Yang, Yaping; Eng, Christine M; Posey, Jennifer E; Shaw, Chad A.
Afiliación
  • James RA; Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Campbell IM; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Chen ES; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Boone PM; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rao MA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bainbridge MN; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Yang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Eng CM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Posey JE; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Shaw CA; Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.
Genome Med ; 8(1): 13, 2016 Feb 02.
Article en En | MEDLINE | ID: mdl-26838676
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad / Biología Computacional / Estudio de Asociación del Genoma Completo Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Med Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad / Biología Computacional / Estudio de Asociación del Genoma Completo Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Med Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido