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Mapping and phasing of structural variation in patient genomes using nanopore sequencing.
Cretu Stancu, Mircea; van Roosmalen, Markus J; Renkens, Ivo; Nieboer, Marleen M; Middelkamp, Sjors; de Ligt, Joep; Pregno, Giulia; Giachino, Daniela; Mandrile, Giorgia; Espejo Valle-Inclan, Jose; Korzelius, Jerome; de Bruijn, Ewart; Cuppen, Edwin; Talkowski, Michael E; Marschall, Tobias; de Ridder, Jeroen; Kloosterman, Wigard P.
Afiliación
  • Cretu Stancu M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • van Roosmalen MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • Renkens I; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • Nieboer MM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • Middelkamp S; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • de Ligt J; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • Pregno G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
  • Giachino D; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
  • Mandrile G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
  • Espejo Valle-Inclan J; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • Korzelius J; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • de Bruijn E; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • Cuppen E; Department of Genetics and Cancer Genomics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.
  • Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
  • Marschall T; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.
  • de Ridder J; Program in Population and Medical Genetics and Stanley Center for Psychiatric Research, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
  • Kloosterman WP; Center for Bioinformatics, Saarland University, 66123, Saarbrücken, Germany.
Nat Commun ; 8(1): 1326, 2017 11 06.
Article en En | MEDLINE | ID: mdl-29109544
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Mapeo Cromosómico / Nanoporos / Cromotripsis Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Mapeo Cromosómico / Nanoporos / Cromotripsis Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido