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cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data.
Samarakoon, Pubudu Saneth; Sorte, Hanne Sørmo; Stray-Pedersen, Asbjørg; Rødningen, Olaug Kristin; Rognes, Torbjørn; Lyle, Robert.
Afiliación
  • Samarakoon PS; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. saneth.samarakoon@gmail.com.
  • Sorte HS; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. h.s.sorte@medisin.uio.no.
  • Stray-Pedersen A; Norwegian National Newborn Screening, Oslo University Hospital, Oslo, Norway. astrayped@gmail.com.
  • Rødningen OK; Center for Human Immunobiology/Section of Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, TX, USA. astrayped@gmail.com.
  • Rognes T; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. astrayped@gmail.com.
  • Lyle R; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. olaugrod@gmail.com.
BMC Genomics ; 17: 51, 2016 Jan 14.
Article en En | MEDLINE | ID: mdl-26764020
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Male Idioma: En Revista: BMC Genomics Asunto de la revista: GENETICA Año: 2016 Tipo del documento: Article País de afiliación: Noruega
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Male Idioma: En Revista: BMC Genomics Asunto de la revista: GENETICA Año: 2016 Tipo del documento: Article País de afiliación: Noruega