Article
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2022
Yauy Kevin, Lecoquierre François, Baert-Desurmont Stéphanie, Trost Detlef, Boughalem Aicha, Luscan Armelle, Costa Jean-Marc, Geromel Vanna, Raymond Laure, Richard Pascale, Coutant Sophie, Broutin Mélanie, Lanos Raphael, Fort Quentin, Cackowski Stenzel, Testard Quentin, Diallo Abdoulaye, Soirat Nicolas, Holder Jean-Marc, Duforet-Frebourg Nicolas, Bouge Anne-Laure, Beaumeunier Sacha, Bertrand Denis, Audoux Jerome, Genevieve David, Mesnard Laurent, Nicolas Gael, Thevenon Julien, Philippe Nicolas
Abstract excerpt
PURPOSE: Retrospective interpretation of sequenced data in light of the current literature is a major concern of the field. Such reinterpretation is manual and both human resources and variable operating procedures are the main bottlenecks. METHODS: Genome Alert! method automatically reports changes with potential clinical significance in variant classification between releases of the ClinVar database. Using...
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