Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Raphaël Leman; Pascaline Gaildrat; Gérald Le Gac; Chandran Ka; Yann Fichou; Marie-Pierre Audrezet; Virginie Caux-Moncoutier; Sandrine M Caputo; Nadia Boutry-Kryza; Mélanie Léone; Sylvie Mazoyer; Françoise Bonnet-Dorion; Nicolas Sevenet; Marine Guillaud-Bataille; Etienne Rouleau; Brigitte Bressac-de Paillerets; Barbara Wappenschmidt; Maria Rossing; Danielle Muller; Violaine Bourdon; Françoise Revillon; Michael T Parsons; Antoine Rousselin; Grégoire Davy; Gaia Castelain; Laurent Castéra; Joanna Sokolowska; Florence Coulet; Capucine Delnatte; Claude Férec; Amanda B Spurdle; Alexandra Martins; Sophie Krieger; Claude Houdayer

doi:10.1093/nar/gkz1212

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601. doi: 10.1093/nar/gkz1212.

Authors

Raphaël Leman^{1

2

3}, Pascaline Gaildrat², Gérald Le Gac⁴, Chandran Ka⁴, Yann Fichou⁴, Marie-Pierre Audrezet⁴, Virginie Caux-Moncoutier^{5

6

7}, Sandrine M Caputo⁷, Nadia Boutry-Kryza⁸, Mélanie Léone⁸, Sylvie Mazoyer⁹, Françoise Bonnet-Dorion¹⁰, Nicolas Sevenet¹⁰, Marine Guillaud-Bataille¹¹, Etienne Rouleau¹¹, Brigitte Bressac-de Paillerets¹¹, Barbara Wappenschmidt¹², Maria Rossing¹³, Danielle Muller¹⁴, Violaine Bourdon¹⁵, Françoise Revillon¹⁶, Michael T Parsons¹⁷, Antoine Rousselin^{1

2}, Grégoire Davy^{1

2}, Gaia Castelain², Laurent Castéra^{1

2}, Joanna Sokolowska¹⁸, Florence Coulet¹⁹, Capucine Delnatte²⁰, Claude Férec⁴, Amanda B Spurdle¹⁷, Alexandra Martins², Sophie Krieger^{1

2

3}, Claude Houdayer^{5

6

7}

Affiliations

¹ Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.
² Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
³ Normandie Univ, UNICAEN, 14000 Caen, France.
⁴ Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
⁵ Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.
⁶ Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.
⁷ Service de Génétique, Institut Curie, 75005 Paris, France.
⁸ Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
⁹ Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
¹⁰ Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
¹¹ Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
¹² Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
¹³ Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
¹⁴ Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
¹⁵ Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
¹⁶ Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
¹⁷ Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
¹⁸ Service de Génétique, CHU Nancy, 54035 Nancy, France.
¹⁹ Service de génétique, Hôpital Pitié Salpétrière, AP-HP, 75013 Paris, France.
²⁰ Laboratoire de génétique moléculaire, CHU Nantes, 44000 Nantes, France.

No abstract available

Publication types

Published Erratum