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UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution |
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| Authors: | David Salgado Jean‐Pierre Desvignes Ghadi Rai Arnaud Blanchard Morgane Miltgen Amélie Pinard Nicolas Lévy Gwenaëlle Collod‐Béroud Christophe Béroud |
| Institution: | 1. Aix‐Marseille Université, GMGF, Marseille 13385, France;2. Inserm, UMR_S 910, Marseille 13385, France;3. APHM, H?pital TIMONE Enfants, Laboratoire de Génétique Moléculaire, Marseille 13385, France |
| Abstract: | |
| Keywords: | pathogenicity prediction mutation bioinformatics NGS substitution synonymous nonsynonymous nonsense |