See how Henry Ford Health enhanced their genetic testing by adopting exome sequencing for hereditary cancer, cystic fibrosis, and pharmacogenetics applications.
We are thrilled to join the 35th Brazilian Congress of Medical Genetics as it brings together...
SOPHiA GENETICS is excited to attend this year’s Association of Molecular Pathology (AMP) Annual...
SOPHiA GENETICS is excited to attend this year’s American Society of Human Genetics (ASHG) Annual...
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.
