Article
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.
Circulation. Genomic and precision medicine - 1 Jun 2018
Muiño-Mosquera Laura, Steijns Felke, Audenaert Tjorven, Meerschaut Ilse, De Paepe Anne, Steyaert Wouter, Symoens Sofie, Coucke Paul, Callewaert Bert, Renard Marjolijn, De Backer Julie
Abstract excerpt
BACKGROUND: The introduction of next-generation sequencing techniques has substantially increased the identification of new genetic variants and hence the necessity of accurate variant interpretation. In 2015, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology proposed new variant interpretation guidelines. Gene-specific characteristics were, however, not considered,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.