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- December 9, 2019.
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- Version 1 (February 2, 2018 - 08:15).
- Version 2 (May 22, 2018 - 11:37).
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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
Author Information
- Joanna Kaplanis1,*,
- Kaitlin E. Samocha1,*,
- Laurens Wiel2,3,*,
- Zhancheng Zhang4,*,
- Kevin J. Arvai4,
- Ruth Y. Eberhardt1,
- Giuseppe Gallone1,
- Stefan H. Lelieveld2,
- Hilary C. Martin1,
- Jeremy F. McRae1,
- Patrick J. Short1,
- Rebecca I. Torene4,
- Elke de Boer5,
- Petr Danecek1,
- Eugene J. Gardner1,
- Ni Huang1,
- Jenny Lord1,6,
- Iñigo Martincorena1,
- Rolph Pfundt5,
- Margot R. F. Reijnders2,
- Alison Yeung7,8,
- Helger G. Yntema2,
- DDD Study,
- Lisenka E. L. M. Vissers5,
- Jane Juusola4,
- Caroline F. Wright9,
- Han G. Brunner5,10,
- Helen V. Firth1,11,
- David R. FitzPatrick12,
- Jeffrey C. Barrett1,
- Matthew E. Hurles1,#,†,
- Christian Gilissen2,# and
- Kyle Retterer4,#
- 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
- 2Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
- 3Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
- 4GeneDx, Gaithersburg, Maryland, USA
- 5Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
- 6Human Development and Health, Faculty of Medicine, University of Southampton, UK
- 7Victorian Clinical Genetics Services, Melbourne, Australia
- 8Murdoch Children’s Research Institute, Melbourne, Australia
- 9Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK
- 10Department of Clinical Genetics, GROW school for oncology and developmental biology, and MHENS school for mental health and neuroscience, Maastricht University Medical Centre, Maastricht, 6202 AZ, the Netherlands
- 11Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 12MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK
- ↵†To whom correspondence should be addressed: meh{at}sanger.ac.uk