Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

• Tobias Eisenberger,

  Affiliation Bioscientia Center for Human Genetics, Ingelheim, Germany

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• Christine Neuhaus,

  Affiliation Bioscientia Center for Human Genetics, Ingelheim, Germany

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• Arif O. Khan,

  Affiliation Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia

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• Christian Decker,

  Affiliation Bioscientia Center for Human Genetics, Ingelheim, Germany

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• Markus N. Preising,

  Affiliation Department of Ophthalmology, Justus-Liebig-University Giessen, University Hospital Giessen and Marburg GmbH, Giessen Campus, Giessen, Germany

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• Christoph Friedburg,

  Affiliation Department of Ophthalmology, Justus-Liebig-University Giessen, University Hospital Giessen and Marburg GmbH, Giessen Campus, Giessen, Germany

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• Anika Bieg,

  Affiliation Bioscientia Center for Human Genetics, Ingelheim, Germany

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• Martin Gliem,

  Affiliation Department of Ophthalmology, University of Bonn, Bonn, Germany

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• Peter Charbel Issa,

  Affiliation Department of Ophthalmology, University of Bonn, Bonn, Germany

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• Frank G. Holz,

  Affiliation Department of Ophthalmology, University of Bonn, Bonn, Germany

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• Shahid M. Baig,

  Affiliation Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan

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• Yorck Hellenbroich,

  Affiliation Institute of Human Genetics, University of Lübeck, Lübeck, Germany

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• Alberto Galvez,

  Affiliation Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia

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• Konrad Platzer,

  Affiliation Institute of Human Genetics, University of Lübeck, Lübeck, Germany

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• Bernd Wollnik,

  Affiliations Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany

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• Nadja Laddach,

  Affiliation MRC Holland, Amsterdam, The Netherlands

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• Saeed Reza Ghaffari,

  Affiliation Comprehensive Genetic Center, Tehran University of Medical Sciences, Tehran, Iran

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• Maryam Rafati,

  Affiliation Avicenna Biotechnology Research Institute, Tehran, Iran

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• Elke Botzenhart,

  Affiliation Pränatalzentrum Hamburg und Humangenetik, Hamburg, Germany

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• Sigrid Tinschert,

  Affiliations Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany, Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

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• Doris Börger,

  Affiliation Humangenetik, Bremen, Germany

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• Axel Bohring,

  Affiliation Institute of Human Genetics, Westfälische Wilhelms-University, Münster, Germany

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• Julia Schreml,

  Affiliations Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany

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• Stefani Körtge-Jung,

  Affiliation Praenatal-Medizin und Genetik Düsseldorf, Düsseldorf, Germany

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• Chayim Schell-Apacik,

  Affiliation Praxis für Humangenetik am DRK-Klinikum Westend, Berlin, Germany

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• Khadijah Bakur,

  Affiliation Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia

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• Jumana Y. Al-Aama,

  Affiliation Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia

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• Teresa Neuhann,

  Affiliation Medizinisch Genetisches Zentrum, Munich, Germany

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• Peter Herkenrath,

  Affiliation Department of Pediatrics, University Hospital of Cologne, Cologne, Germany

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• Gudrun Nürnberg,

  Affiliations Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, Cologne Center for Genomics and Center for Molecular Medicine, University of Cologne, Cologne, Germany

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• Peter Nürnberg,

  Affiliations Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, Cologne Center for Genomics and Center for Molecular Medicine, University of Cologne, Cologne, Germany

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• John S. Davis,

  Affiliation Department of Ophthalmology, Zayed Military Hospital, Abu Dhabi, United Arab Emirates

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• Andreas Gal,

  Affiliation Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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• Carsten Bergmann,

  Affiliations Bioscientia Center for Human Genetics, Ingelheim, Germany, Center for Clinical Research, University Hospital of Freiburg, Freiburg, Germany

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• Birgit Lorenz,

  Affiliation Department of Ophthalmology, Justus-Liebig-University Giessen, University Hospital Giessen and Marburg GmbH, Giessen Campus, Giessen, Germany

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•  [ ... ],
• Hanno J. Bolz

  * E-mail: hanno.bolz@bioscientia.de

  Affiliations Bioscientia Center for Human Genetics, Ingelheim, Germany, Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany

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