Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome-Reference-Cited by-同舟云学术

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

Published:2014-09-03 Issue:252 Volume:6 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Zemojtel Tomasz¹²³,Köhler Sebastian¹,Mackenroth Luisa¹,Jäger Marten¹,Hecht Jochen⁴⁵,Krawitz Peter¹⁴,Graul-Neumann Luitgard¹,Doelken Sandra¹,Ehmke Nadja¹,Spielmann Malte¹⁴,Øien Nancy Christine¹⁶,Schweiger Michal R.¹⁴⁷,Krüger Ulrike¹,Frommer Götz⁸,Fischer Björn¹⁴,Kornak Uwe¹⁴,Flöttmann Ricarda¹,Ardeshirdavani Amin⁹,Moreau Yves⁹,Lewis Suzanna E.¹⁰,Haendel Melissa¹¹,Smedley Damian¹²,Horn Denise¹,Mundlos Stefan¹⁴⁵,Robinson Peter N.¹⁴⁵¹³

Affiliation:

1. Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

2. Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704 Poznan, Poland.

3. Labor Berlin–Charité Vivantes GmbH, Humangenetik, Föhrer Straße 15, 13353 Berlin, Germany.

4. Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany.

5. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.

6. Max Delbrück Center for Molecular Medicine, Robert-Rössle-Str. 10, 13125 Berlin, Germany.

7. Cologne Center for Genomics, University of Cologne, D-50931 Cologne, Germany.

8. Agilent Technologies, Hewlett-Packard-Straße 8, 76337 Waldbronn, Germany.

9. Department of Electrical Engineering, STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, 3001 Leuven, Belgium.

10. Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.

11. University Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Sciences University, Portland, OR 97327, USA.

12. Mouse Informatics Group, Wellcome Trust Sanger Institute, CB10 1SA Hinxton, UK.

13. Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustr. 9, 14195 Berlin, Germany.

Abstract

Patients with genetic disease of unknown causes can be rapidly diagnosed by bioinformatic analysis of disease-associated DNA sequences and phenotype.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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