Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
作者信息
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
机构信息
Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.
Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
出版信息
Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601. doi: 10.1093/nar/gkz1212.
Abstract
摘要
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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.基于395项计算机模拟/体外研究组合开发的新型剪接变异致病性预测诊断工具：一项国际合作成果。
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