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Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data.
Benton, Miles C; Smith, Robert A; Haupt, Larisa M; Sutherland, Heidi G; Dunn, Paul J; Albury, Cassie L; Maksemous, Neven; Lea, Rodney; Griffiths, Lyn.
  • Benton MC; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Smith RA; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Haupt LM; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Sutherland HG; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Dunn PJ; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Albury CL; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Maksemous N; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Lea R; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Griffiths L; Genomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Science, Queensland University of Technology, Brisbane, Queensland, Australia. Electronic address: lyn.griffiths@qut.edu.au.
J Mol Diagn ; 21(6): 951-960, 2019 11.
Article en En | MEDLINE | ID: mdl-31442673
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Secuenciación de Nucleótidos de Alto Rendimiento / Anotación de Secuencia Molecular / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Secuenciación de Nucleótidos de Alto Rendimiento / Anotación de Secuencia Molecular / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article