Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis-Reference-Cited by-同舟云学术

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Published:2019-07-12 Issue:11 Volume:40 Page:1993-2000
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chatron Nicolas¹²^ORCID,Cassinari Kevin³,Quenez Olivier³,Baert‐Desurmont Stéphanie⁴,Bardel Claire⁵⁶,Buisine Marie‐Pierre⁷,Calpena Eduardo⁸,Capri Yline⁹,Corominas Galbany Jordi¹⁰,Diguet Flavie¹²,Edery Patrick¹²,Isidor Bertrand¹¹,Labalme Audrey¹,Le Caignec Cedric¹¹¹²^ORCID,Lévy Jonathan¹³,Lecoquierre François⁴,Lindenbaum Pierre¹⁴¹⁵,Pichon Olivier¹¹,Rollat‐Farnier Pierre‐Antoine¹⁵,Simonet Thomas¹⁶¹⁷,Saugier‐Veber Pascale⁴,Tabet Anne‐Claude¹³¹⁸,Toutain Annick¹⁹²⁰,Wilkie Andrew O. M.⁸,Lesca Gaetan¹²,Sanlaville Damien¹²,Nicolas Gaël³,Schluth‐Bolard Caroline¹²

Affiliation:

1. Genetics Department Hospices Civils de Lyon Lyon France

2. GENDEV Team, CRNL, INSERM U1028, CNRS UMR5292, UCBL1 Lyon France

3. Department of Genetics and CNR‐MAJ Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Center for Genomic and Personalized Medicine Rouen France

4. Department of Genetics Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Center for Genomic and Personalized Medicine Rouen France

5. Bioinformatics group of the Lyon University Hospital NGS facility Groupement Hospitalier Est Lyon France

6. Biostatistics and Bioinformatics Department HCL Lyon France

7. Department of Biochemistry and Molecular Biology, JPA Research Center Inserm UMR‐S 1172, Lille University, Lille University Hospital Lille France

8. Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine University of Oxford Oxford UK

9. Genetics Department, Clinical Genetics Unit Hôpital Universitaire Robert Debré Paris France

10. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

11. Genetics Department CHU Nantes Nantes France

12. INSERM UMR_S915, Institut du thorax Nantes University Nantes France

13. Genetics Department, Cytogenetics Unit Hôpital Universitaire Robert Debré Paris France

14. INSERM, UMR_S1087, Institut du thorax Nantes France

15. CNRS, UMR 6291 Nantes France

16. Cellular Biotechnology Center Hospices Civils de Lyon Lyon France

17. Nerve‐Muscle Interactions Team Institut NeuroMyoGène CNRS UMR 5310‐INSERM U1217‐Université Claude Bernard Lyon 1 Lyon France

18. Neuroscience Department, Human Genetics and Cognitive Function Unit Institut Pasteur Paris France

19. Genetics Department Hôpital Bretonneau, CHU Tours France

20. UMR 1253, iBrain Tours University, Inserm Tours France

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23845

Reference38 articles.

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