How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

Author:

Wortmann Saskia B.12ORCID,Oud Machteld M.34,Alders Mariëlle5,Coene Karlien L. M.36,van der Crabben Saskia N.7,Feichtinger René G.2,Garanto Alejandro189,Hoischen Alex10,Langeveld Mirjam11,Lefeber Dirk3612,Mayr Johannes A.2,Ockeloen Charlotte W.9,Prokisch Holger13,Rodenburg Richard14,Waterham Hans R.315,Wevers Ron A.36,van de Warrenburg Bart P. C.12,Willemsen Michel A. A. P.16,Wolf Nicole I.17,Vissers Lisenka E. L. M.4,van Karnebeek Clara D. M.13518

Affiliation:

1. Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics Amalia Children's Hospital, Radboud University Medical Center Nijmegen The Netherlands

2. University Children's Hospital, Paracelsus Medical University Salzburg Austria

3. United for Metabolic Diseases Amsterdam The Netherlands

4. Department of Human Genetics Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center Nijmegen The Netherlands

5. Department of Human Genetics Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute Amsterdam The Netherlands

6. Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Center Nijmegen The Netherlands

7. Department of Human Genetics Amsterdam University Medical Centers, University of Amsterdam Amsterdam The Netherlands

8. Department of Pediatrics Amalia Children's Hospital, Radboud Institute for Molecular Lifesciences Nijmegen The Netherlands

9. Department of Human Genetics Radboud Institute for Molecular Lifesciences Nijmegen The Netherlands

10. Department of Human Genetics, Department of Internal Medicine and Radboud Center for Infectious Diseases Radboud Institute of Medical Life Sciences, Radboud University Medical Center Nijmegen the Netherlands

11. Department of Endocrinology and Metabolism Amsterdam University Medical Centers, location AMC, University of Amsterdam Amsterdam The Netherlands

12. Department of Neurology, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center Nijmegen The Netherlands

13. School of Medicine Institute of Human Genetics, Technical University Munich and Institute of Neurogenomics Neuherberg Germany

14. Radboud Center for Mitochondrial and Metabolic Medicine Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center Nijmegen The Netherlands

15. Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam University Medical Centers, location AMC, University of Amsterdam Amsterdam The Netherlands

16. Departments of Pediatric Neurology and Pediatrics Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center Nijmegen The Netherlands

17. Amsterdam Leukodystrophy Center, Department of Child Neurology Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam Amsterdam The Netherlands

18. Department of Pediatrics, Emma Center for Personalized Medicine Amsterdam University Medical Centers, Amsterdam, Amsterdam Genetics Endocrinology Metabolism Research Institute, University of Amsterdam Amsterdam The Netherlands

Funder

Bundesministerium für Bildung und Forschung

Austrian Science Fund

Hersenstichting

Horizon 2020 Framework Programme

Michael J. Fox Foundation for Parkinson's Research

Radboud Universitair Medisch Centrum

Stichting Metakids

ZonMw

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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