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.
Pan-cancer testing of microsatellite instability to optimize cancer management strategies
Microsatellite Instability: how do microsatellites mutations correlate with cancer?
Tech Talk: Accelerate HRD detection with SOPHiA DDM™ HRD Solution
Learn about the technology behind the SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution from the lead developer, Dr. Christian Pozzorini.
Targeting homologous recombination deficiency (HRD) in cancer research
Learn about the impact of HRD on cancer development, how HRD status may predict sensitivity to certain treatments, and the different HRD testing methods available.
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.
