- How to classify genetic variants for clinical practice
How to classify genetic variants for clinical practice
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The rapidly increasing number of genes associated with genetic disorders and novel sequence variants in clinical molecular laboratories, creates the essential need for a consistent variant classification system. Such a classification is fundamental to genetic diagnosis and subsequently, the clinical judgment. A uniform nomenclature, informed by a set of standardized criteria, ensures the unambiguous designation of a variant and enables effective sharing and downstream use of genomic information.
- CENTOGENE’s classification scheme and practice classifying real variants according to the ACMG guidelines
- Re-classification report and rationale of changes in the pathogenicity of a particular variant
Dr. Nahid Nahavandi, CENTOGENE’s Senior Vice Director Genetic Reporting, has 8 years of experience in evaluation of genetic variants. She obtained her PhD at the University of Potsdam in molecular biology and captured the DAAD scholarship in 2007 for her ambitious project 'Genetic and Morphological Analysis on the Evolution of the Ponto-Caspian Amphipod Pontogammarus Maeoticus'.