Next generation sequencing has greatly enhanced our power for identifying mutations associated with myeloid malignancies. However, accurate and timely detection of complex variants can be challenging.
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.
Microsatellite Instability: how do microsatellites mutations correlate with cancer?
Learn about the technology behind the SOPHiA DDM Homologous Recombination Deficiency (HRD) Solution from the lead developer, Dr. Christian Pozzorini.
Learn about the impact of HRD in cancer development, how HRD status may predict sensitivity to certain treatments, and the different HRD testing methods available.
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.