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ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Minoche, Andre E; Lundie, Ben; Peters, Greg B; Ohnesorg, Thomas; Pinese, Mark; Thomas, David M; Zankl, Andreas; Roscioli, Tony; Schonrock, Nicole; Kummerfeld, Sarah; Burnett, Leslie; Dinger, Marcel E; Cowley, Mark J.
Afiliación
  • Minoche AE; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, 370 Victoria Street, Darlinghurst, NSW, Australia. a.minoche@garvan.org.au.
  • Lundie B; St Vincent's Clinical School, UNSW, Sydney, NSW, Australia. a.minoche@garvan.org.au.
  • Peters GB; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, 370 Victoria Street, Darlinghurst, NSW, Australia.
  • Ohnesorg T; Sydney Genome Diagnostics, The Children's Hospital at Westmead, Hawkesbury Road & Hainsworth Street, Westmead, NSW, Australia.
  • Pinese M; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, 370 Victoria Street, Darlinghurst, NSW, Australia.
  • Thomas DM; Genome.One, Darlinghurst, NSW, Australia.
  • Zankl A; Children's Cancer Institute, University of New South Wales, Randwick, Sydney, NSW, Australia.
  • Roscioli T; School of Women's and Children's Health, UNSW, Sydney, NSW, Australia.
  • Schonrock N; St Vincent's Clinical School, UNSW, Sydney, NSW, Australia.
  • Kummerfeld S; The Kinghorn Cancer Centre and Cancer Division, Garvan Institute of Medical Research, 370 Victoria Street, Darlinghurst, NSW, Australia.
  • Burnett L; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, 370 Victoria Street, Darlinghurst, NSW, Australia.
  • Dinger ME; Department of Clinical Genetics, The Children's Hospital at Westmead, Hawkesbury Road, Westmead, NSW, Australia.
  • Cowley MJ; Sydney Medical School, The University of Sydney, Camperdown, NSW, Australia.
Genome Med ; 13(1): 32, 2021 02 25.
Article en En | MEDLINE | ID: mdl-33632298
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Programas Informáticos / Variaciones en el Número de Copia de ADN / Secuenciación Completa del Genoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genome Med Año: 2021 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Programas Informáticos / Variaciones en el Número de Copia de ADN / Secuenciación Completa del Genoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genome Med Año: 2021 Tipo del documento: Article País de afiliación: Australia