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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman, Raphaël; Gaildrat, Pascaline; Le Gac, Gérald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Françoise; Parsons, Michael T; Rousselin, Antoine; Davy, Grégoire; Castelain, Gaia; Castéra, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Férec, Claude; Spurdle, Amanda B; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude.
Afiliação
  • Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.
  • Gaildrat P; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
  • Le Gac G; Normandie Univ, UNICAEN, 14000 Caen, France.
  • Ka C; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
  • Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
  • Audrezet MP; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
  • Caux-Moncoutier V; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
  • Caputo SM; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
  • Boutry-Kryza N; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.
  • Léone M; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.
  • Mazoyer S; Service de Génétique, Institut Curie, 75005 Paris, France.
  • Bonnet-Dorion F; Service de Génétique, Institut Curie, 75005 Paris, France.
  • Sevenet N; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
  • Guillaud-Bataille M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
  • Rouleau E; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
  • Bressac-de Paillerets B; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
  • Wappenschmidt B; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
  • Rossing M; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
  • Muller D; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
  • Bourdon V; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
  • Revillon F; Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
  • Parsons MT; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
  • Rousselin A; Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
  • Davy G; Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
  • Castelain G; Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
  • Castéra L; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
  • Sokolowska J; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.
  • Coulet F; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
  • Delnatte C; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.
  • Férec C; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
  • Spurdle AB; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
  • Martins A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.
  • Krieger S; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
  • Houdayer C; Service de Génétique, CHU Nancy, 54035 Nancy, France.
Nucleic Acids Res ; 48(3): 1600-1601, 2020 02 20.
Article em En | MEDLINE | ID: mdl-31863589
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article