Application Note: Mitochondrial genome analysis with SOPHiA DDM™️ Whole-exome Sequencing

Discover how Dr. Mohamed Z Alimohamed used Alamut™️ to develop a decision tree for the prioritization of potential RNA

Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial

Read our descriptive guide to the HGVS nomenclature standard, genome reference assemblies, and MANE transcripts and how they are

Did you miss our ASHG symposium? Don’t fret! Read our recap of how renowned genomic experts saved time, reduced

Our platform has analyzed over 1 million genomic profiles, we chatted with some experts to see how this data

Read our SOPHiA DDM™️ Dx ROS performance evaluation study and make confident data-driven decisions that improve patient care.

Studies show that as few as 10% of people living with familial hypercholesterolemia (FH) could be aware of their

Last week we attended the European Society for Medical Oncology (ESMO) Congress 2022, gathering the world's leading oncologists. Read

Whole exome sequencing can present a goldilocks option between targeted gene panels and whole genome sequencing. Dive into some

Read about our successful collaborations, Dr Terracciano’s favorite SOPHiA DDM™ features, and what she sees in the future for

Check out our step-by-step guide to using SOPHiA DDM™️ complemented by Alamut™️ Visual Plus to streamline the interpretation of

Cancer management outcomes can strongly benefit from robust and accurate detection of gene fusions. SOPHiA GENETICS™ developed the SOPHiA