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?
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.
SOPHiA GENETICS is excited to be a part of the American Society of Human...
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.
Test your knowledge in our quick-fire quiz for Rare Chromosome Disorder Awareness Week 2022!
Learn about the SOPHiA DDM™ Platform’s CNV detection algorithm from our Senior Algorithm Researcher, Bita Khalili.
Read our summary of top-rated research in the field of exome sequencing at the American College
of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting 2022.
Test your rare disease knowledge in our quiz for Rare Disease Day 2022!
Whole exome sequencing has the potential to accelerate the diagnosis of rare diseases, but without the right tools, achieving comprehensive coverage and sifting through tens of thousands of variants is a challenge.
