We are thrilled to join the 35th Brazilian Congress of Medical Genetics as it brings together...
CBGM 2024
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rare diseases
AMP 2024
SOPHiA GENETICS is excited to attend this year’s Association of Molecular Pathology (AMP) Annual...
ASHG 2024
SOPHiA GENETICS is excited to attend this year’s American Society of Human Genetics (ASHG) Annual...
Customer Spotlight: Katherine Lafferty at Broad Clinical Labs
We recently sat down to talk with Katherine Lafferty, MS, CGC about how Alamut™ Visual Plus helps her overcome the variant interpretation challenges she encounters in her work as a variant analyst. Read our discussion.
Cascade testing in hereditary cancer: analyzing genetic predisposition for early detection
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?
ASHG 2023
SOPHiA GENETICS™ is excited to be a part of the American Society of Human...
In the Face of Rare Disease: The Inspiring Story of Brooklynn
On Rare Disease Day, SOPHiA GENETICS celebrates and honors the strength, resilience, and positivity of real-life superheroes who inspire us every day.
A beginner’s guide to mutation nomenclature using the HGVS recommendations
Understand the HGVS recommendations with this sequence variant nomenclature guide that includes visual examples.
ESHG 2023
SOPHiA GENETICS™ is excited to be a part of the European Society of Human Genetics annual meeting,...
ACMG 2023
SOPHiA GENETICS™ is excited to be a part of the American College of Medical Genetics annual...
Application Note: Mitochondrial genome analysis with SOPHiA DDM™️ Whole-exome Sequencing
Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome analysis.
Alamut™️ Visual Plus Technical Note: Guideline-driven nomenclature for variant analysis
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.