Articoli scientifici
Esplora le nostre pubblicazioni per approfondire prospettive utili sui principali temi che guidano la medicina di precisione e la ricerca clinica.
ARTICOLI SCIENTIFICI
Is there a duty to routinely reinterpret genomic variant classifications?
This whitepaper examines whether diagnostic laboratories have a duty to routinely reinterpret genomic variant classifications, and what that responsibility means for VUS management, diagnostic equity, and the responsible use of genomics in clinical care.
ARTICOLI SCIENTIFICI
Clinical utility of periodic reinterpretation
of CNVs of uncertain significance: an 8‑year
retrospective study
This whitepaper examines the clinical utility of periodically reinterpreting CNVs of uncertain significance, showing how updated databases and ACMG criteria can resolve uncertainty, improve diagnostic yield, and support more accurate genetic counseling over time.
ARTICOLI SCIENTIFICI
The importance of variant reinterpretation in
inherited cardiovascular diseases:
Establishing the optimal timeframe
This whitepaper explores the importance of routine variant reinterpretation in inherited cardiovascular diseases, highlighting how reclassification affects diagnosis, family screening, genetic counseling, and the optimal timing for keeping variant classifications up to date.
ARTICOLI SCIENTIFICI
Reclassification of VUS Using ACMG/AMP Criteria Adapted for
Sarcomeric Genes Related to Hypertrophic Cardiomyopathy:
Resolution Rate and Considerations
This whitepaper examines how adapted ACMG/AMP criteria for sarcomeric genes can reduce VUS rates in hypertrophic cardiomyopathy, improving molecular diagnosis, clinical management, and the standardization of variant interpretation.
ARTICOLI SCIENTIFICI
Variant reclassification and recontact research: A
scoping review
This whitepaper reviews current research on variant reclassification and patient recontact, explaining how inconsistent practices, stakeholder expectations, and the lack of standardized guidance shape the future of responsible genetic result management.