Article Spotlight: Creating a splice variant decision tree
Discover how Dr. Mohamed Z Alimohamed used Alamut™️ to develop a decision tree for the prioritization of potential RNA splice variants in cardiomyopathy genes.
Application Note: Mitochondrial genome analysis with SOPHiA DDM™️ Whole-exome Sequencing
Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome analysis.
Alamut™️ Visual Plus Technical Note: Guideline-driven nomenclature for variant analysis
Read our descriptive guide to the HGVS nomenclature standard, genome reference assemblies, and MANE transcripts and how they are applied in Alamut™️ Visual Plus in this Technical Note.
Food for thought from ASHG 2022: Affordable, comprehensive, and accessible variant analysis and interpretation with the SOPHiA DDM™ Platform
Did you miss our ASHG symposium? Don’t fret! Read our recap of how renowned genomic experts saved time, reduced costs, and improved the yield of their hereditary cancer and rare disease workflows using SOPHiA DDM™ combined with Alamut™ Visual Plus.
Improving Analytics with 1 Million Genomic Profiles
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.
White Paper: Performance Evaluation of the CE-IVD SOPHiA DDM™️ Dx RNAtarget Oncology Solution (ROS)
Read our SOPHiA DDM™️ Dx ROS performance evaluation study and make confident data-driven decisions that improve patient care.
Raising Awareness of Familial Hypercholesterolemia (FH)
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?
Food for thought from ESMO 2022: the journey towards personalized therapy
Last week we attended the European Society for Medical Oncology (ESMO) Congress 2022, gathering the world's leading oncologists. Read our summary of three presentations illustrating cancer therapy development.
Considerations for whole exome sequencing
Whole exome sequencing can present a goldilocks option between targeted gene panels and whole genome sequencing. Dive into some of the considerations for adopting whole exome sequencing in your institution.
Partner Spotlight: Dr Alessandra Terracciano
Read about our successful collaborations, Dr Terracciano’s favorite SOPHiA DDM™ Platform features, and what she sees in the future for SOPHiA GENETICS.
Application Note: The SOPHiA DDM™️ Platform for Neurological Disorders
Check out our step-by-step guide to using SOPHiA DDM™️ complemented by Alamut™️ Visual Plus to streamline the interpretation of clinical exome data for neurological disorders.
Seven reasons to choose SOPHiA DDM™ Dx RNAtarget Oncology Solution for gene fusion detection
Cancer management outcomes can strongly benefit from robust and accurate detection of gene fusions. SOPHiA GENETICS developed the SOPHiA DDM™ Dx RNAtarget Oncology Solution to make this possible.
We list 7 reasons to consider SOPHiA DDM™ Dx RNAtarget Oncology Solution for your assays.
Food for thought from ASCO 2022: breaking boundaries in breast cancer research
Last week we attended the 2022 American Society of Clinical Oncology (ASCO) meeting, gathering the world's leading researchers in oncology. Read our summary of four groundbreaking presentations on breast cancer research.
Food for thought from ESHG 2022: The power of genomic testing for advancing pediatric healthcare
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.
Rare Chromosome Disorder Awareness Week 2022
Test your knowledge in our quick-fire quiz for Rare Chromosome Disorder Awareness Week 2022!
