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?
Rare and Inherited Diseases
Understand the HGVS recommendations with this sequence variant nomenclature guide that includes visual examples.
Discover how Dr. Mohamed Z Alimohamed used Alamut™️ to develop a decision tree for the prioritization of potential RNA splice variants in cardiomyopathy genes.
Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome 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.
Food for thought from ASHG 2022: Affordable, comprehensive, and accessible variant analysis and interpretation with the SOPHiA DDM™ Platform
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.
Our platform has analyzed over 1 million genomic profiles, we chatted with some experts to see how this data is helping to improve our knowledge over time.
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?
Whole exome sequencing can present a goldilocks option between targeted gene panels and whole genome sequencing. Dive into some of the considerations for adopting whole exome sequencing in your institution.
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.
Read our summary of new research studies presented at the European Society of Human Genetics (ESHG) Annual Conference 2022 about how next-generation sequencing is advancing pediatric healthcare.