Despite the advantages of cascade testing, it is a vastly underused cancer prevention strategy. What are the barriers and facilitators for cascade testing in hereditary cancer syndromes?
SOPHiA GENETICS™ is excited to be a part of the American Society of Human...
Hospices Civils de Lyon in France share their insights from 5 years of experience using NGS for the molecular diagnosis of inherited cardiac diseases.
Understand the HGVS recommendations with this sequence variant nomenclature guide that includes visual examples.
SOPHiA GENETICS™ is excited to be a part of the European Society of Human Genetics annual meeting,...
SOPHiA GENETICS™ is excited to be a part of the American College of Medical Genetics annual...
Discover how Dr. Mohamed Z Alimohamed used Alamut™️ to develop a decision tree for the prioritization of potential RNA splice variants in cardiomyopathy genes.
Read our descriptive guide to the HGVS nomenclature standard, genome reference assemblies, and MANE transcripts and how they are applied in Alamut™️ Visual Plus in this Technical Note.
Did you miss our ASHG symposium? Don’t fret! Read our recap of how renowned genomic experts saved time, reduced costs, and improved the yield of their hereditary cancer and rare disease workflows using SOPHiA DDM™ combined with Alamut™ Visual Plus.
Studies show that as few as 10% of people living with familial hypercholesterolemia (FH) could be aware of their diagnosis. Could genetic testing expedite early diagnosis and timely treatment?
Read about our successful collaborations, Dr Terracciano’s favorite SOPHiA DDM™ Platform features, and what she sees in the future for SOPHiA GENETICS.
Check out our step-by-step guide to using SOPHiA DDM™️ complemented by Alamut™️ Visual Plus to streamline the interpretation of clinical exome data for neurological disorders.
