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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani, Valentina; Pontikos, Nikolas; Arno, Gavin; Sergouniotis, Panagiotis I; Lenassi, Eva; Thawong, Penpitcha; Danis, Daniel; Michaelides, Michel; Webster, Andrew R; Moore, Anthony T; Robinson, Peter N; Jacobsen, Julius O B; Smedley, Damian.
Afiliación
  • Cipriani V; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
  • Pontikos N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Arno G; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
  • Sergouniotis PI; UCL Genetics Institute, University College London, London WC1E 6AA, UK.
  • Lenassi E; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Thawong P; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
  • Danis D; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Michaelides M; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
  • Webster AR; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital NHS Trust, London WC1N 3BH, UK.
  • Moore AT; Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK.
  • Robinson PN; Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK.
  • Jacobsen JOB; Department of Medical Sciences, Medical Genetics Section, National Institute of Health, Ministry of Public Health, Nonthaburi 11000, Thailand.
  • Smedley D; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Genes (Basel) ; 11(4)2020 04 23.
Article en En | MEDLINE | ID: mdl-32340307
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades de la Retina / Programas Informáticos / Benchmarking / Exoma / Secuenciación del Exoma Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades de la Retina / Programas Informáticos / Benchmarking / Exoma / Secuenciación del Exoma Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article Pais de publicación: Suiza