The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Author:

Laurie Steven1,Piscia Davide1,Matalonga Leslie1,Corvo Alberto1,Garcia Carles1,Fernandez‐Callejo Marcos1,Hernandez Carles1,Luengo Cristina1,Ntalis Anastasios Papakonstantinou12,Protassio Joan1,Martinez Ines1,Pico Daniel1,Thompson Rachel3,Tonda Raul1,Bayes Monica1,Bullich Gemma1,Camps Jordi1,Paramonov Ida1,Trotta Jean‐Remi1,Alonso Angel4,Attimonelli Marcella5,Béroud Christophe6,Bros‐Facer Virginie7,Buske Orion8,Cañada Andrés9,Fernandez Josè Maria10,Hansson Mats11,Horvath Rita12,Jacobsen Julius13,Kaliyaperumal Rajaram14,Lair Severine15,Licata Luana16,Lopes Pedro17,López‐Martin Estrella18,Mascalzoni Deborah111920,Monaco Lucia21,Jurado Luis Pérez222324,Posada Manuel25,Rambla Jordi26ORCID,Rath Ana27,Riess Olaf28,Robinson Peter29ORCID,Smedley Damian3031,Spalding Dylan J.32,'t Hoen Peter‐Bram33,Töpf Ana34,Zaharieva Irina35ORCID,Graessner Holm2836,Gut Ivo3738,Lochmúller Hanns33940,Beltran Sergi13841ORCID

Affiliation:

1. CNAG‐CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST)

2. Centro Nacional de Análisis Genómico

3. Children's Hospital of Eastern Ontario Research Institute

4. Navarrabiomed; Universidad Publica de Navarra

5. University of Bari Department of Biosciences Biotechnology and Pharmacological Bioscience

6. Marseille Medical Genetics, INSERM UMR_S910; APHM, Hôpital d'Enfants de la Timone, Déparement de Génétique Médicale

7. EURORDIS, Paris

8. Phenotips, Toronto

9. Centro Nacional de Investigaciones Oncologicas

10. Barcelona Supercomputing Center

11. Uppsala Universitet Medicinska fakulteten,

12. University of Cambridge Cambridge Centre for Brain Repair

13. Queen Mary University of London ‐ Charterhouse Square Campus

14. Leiden University Medical Center

15. Interactive Biosoftware, Rouen

16. University of Rome Tor Vergata, Department of Biology

17. IEETA

18. Instituto de Salud Carlos III, Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases

19. Centre for Research Ethics and Bioethics

20. University of lubeck Institute of biomedicine

21. Fondazione Telethon, Milan

22. Universitat Pompeu Fabra, Unitat de Genètica, Departament de Ciències Experimentals i de la Salut

23. ISCIII, CIBERER

24. Institut Hospital del Mar d'Investigacions Mediques, Servei de Genètica, Hospital del Mar

25. Instituto de Salud Carlos III (ISCIII), SpainRDR and CIBERER, Instituto de Investigación en Enfermedades Raras (IIER)

26. Center for Genomic Regulation, EGA

27. INSERM, US14

28. University of Tubingen Institute for Medical Genetics and Applied Genomics

29. Charite Universitätsmedizin Berlin, The Jackson Laboratory

30. Barts and The London School of Medicine and Dentistry William Harvey Research Institute

31. Queen Mary University of London Barts and The London School of Medicine and Dentistry

32. CSC IT Center for Science Ltd

33. Radboud Universiteit Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences

34. The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University

35. UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre

36. University Hospital Tubingen Centre for Rare Diseases

37. Centro Nacional de Análisis Genómico Baldiri Reixac

38. Pompeu Fabra University

39. Ottawa Hospital, Division of Neurology, Department of Medicine

40. University of Ottawa, Brain and Mind Research Institute

41. Universitat de Barcelona, Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

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