Test your knowledge in our quick-fire quiz for Rare Chromosome Disorder Awareness Week 2022!
Rare Chromosome Disorder Awareness Week 2022
read more
Rare and Inherited Diseases
Tech Talk: Achieve sensitive and precise CNV calling with SOPHiA DDM™ Platform
Learn about the SOPHiA DDM™ Platform’s CNV detection algorithm from our Senior Algorithm Researcher, Bita Khalili.
Food for thought from ACMG 2022: Unleashing the potential of exome sequencing
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.
Rare Disease Day 2022
Test your rare disease knowledge in our quiz for Rare Disease Day 2022!
Separating the wheat from the chaff: Overcoming the challenges of exome sequencing
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.
Continuing to crack the mitochondrial genetic code
What are mitochondria, why do they cause disease, and how can we analyze their genome?
Food for thought from FoG 2022: The future of genomics for rare and inherited disorders
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.