Research ArticleGENETIC DIAGNOSIS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

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Science Translational Medicine  03 Sep 2014:
Vol. 6, Issue 252, pp. 252ra123
DOI: 10.1126/scitranslmed.3009262

Article Information

vol. 6 no. 252 252ra123

PubMed: 
Print ISSN: 
Online ISSN: 
History: 
  • Received for publication April 9, 2014
  • Accepted for publication August 4, 2014
  • .

Author Information

  1. Tomasz Zemojtel1,2,3,*,
  2. Sebastian Köhler1,*,
  3. Luisa Mackenroth1,*,
  4. Marten Jäger1,
  5. Jochen Hecht4,5,
  6. Peter Krawitz1,4,
  7. Luitgard Graul-Neumann1,
  8. Sandra Doelken1,
  9. Nadja Ehmke1,
  10. Malte Spielmann1,4,
  11. Nancy Christine Øien1,6,
  12. Michal R. Schweiger1,4,7,
  13. Ulrike Krüger1,
  14. Götz Frommer8,
  15. Björn Fischer1,4,
  16. Uwe Kornak1,4,
  17. Ricarda Flöttmann1,
  18. Amin Ardeshirdavani9,
  19. Yves Moreau9,
  20. Suzanna E. Lewis10,
  21. Melissa Haendel11,
  22. Damian Smedley12,
  23. Denise Horn1,
  24. Stefan Mundlos1,4,5 and
  25. Peter N. Robinson1,4,5,13,
  1. 1Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
  2. 2Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704 Poznan, Poland.
  3. 3Labor Berlin–Charité Vivantes GmbH, Humangenetik, Föhrer Straße 15, 13353 Berlin, Germany.
  4. 4Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany.
  5. 5Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  6. 6Max Delbrück Center for Molecular Medicine, Robert-Rössle-Str. 10, 13125 Berlin, Germany.
  7. 7Cologne Center for Genomics, University of Cologne, D-50931 Cologne, Germany.
  8. 8Agilent Technologies, Hewlett-Packard-Straße 8, 76337 Waldbronn, Germany.
  9. 9Department of Electrical Engineering, STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, 3001 Leuven, Belgium.
  10. 10Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.
  11. 11University Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Sciences University, Portland, OR 97327, USA.
  12. 12Mouse Informatics Group, Wellcome Trust Sanger Institute, CB10 1SA Hinxton, UK.
  13. 13Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustr. 9, 14195 Berlin, Germany.
  1. Corresponding author. E-mail: peter.robinson{at}charite.de
    • * These authors contributed equally to this work.

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