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.
Rare and Inherited Diseases
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 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.
What are mitochondria, why do they cause disease, and how can we analyze their genome?
We attended the world’s largest genomics and biodata event last week, and it did not disappoint. Read our summary of three thought-provoking sessions on rare and inherited disorders at the Festival of Genomics & Biodata 2022.