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VarSight: prioritizing clinically reported variants with binary classification algorithms.
Holt, James M; Wilk, Brandon; Birch, Camille L; Brown, Donna M; Gajapathy, Manavalan; Moss, Alexander C; Sosonkina, Nadiya; Wilk, Melissa A; Anderson, Julie A; Harris, Jeremy M; Kelly, Jacob M; Shaterferdosian, Fariba; Uno-Antonison, Angelina E; Weborg, Arthur; Worthey, Elizabeth A.
Afiliación
  • Holt JM; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA. jholt@hudsonalpha.org.
  • Wilk B; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Birch CL; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Brown DM; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Gajapathy M; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Moss AC; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Sosonkina N; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Wilk MA; University of Alabama at Birmingham, Department of Genetics, 720 20th Street South, Birmingham, 35294, USA.
  • Anderson JA; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Harris JM; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Kelly JM; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Shaterferdosian F; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Uno-Antonison AE; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
  • Weborg A; HudsonAlpha Institute for Biotechnology, Software Development and Informatics, 601 Genome Way, Huntsville, 35806, USA.
BMC Bioinformatics ; 20(1): 496, 2019 Oct 15.
Article en En | MEDLINE | ID: mdl-31615419

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Algoritmos / Genómica / Enfermedades Raras / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Guideline / Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Algoritmos / Genómica / Enfermedades Raras / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Guideline / Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
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