Liquid biopsy is revolutionizing precision oncology with its non-invasive approach. In this blog, we explore its clinical applications and why the right analytical technologies are needed when searching in a sea of genomic data.
Streamlined workflow for Chronic Lymphocytic Leukemia study
Despite the advantages of cascade testing, it is a vastly underused cancer prevention strategy. What are the barriers and facilitators for cascade testing in hereditary cancer syndromes?
Companion Diagnostics (CDx) are important tools in the practice and application of precision medicine. This introductory blog provides an overview of their development through clinical trials, regulatory implications, and clinical utility.
Explore the realm of precision medicine as we define its significance, uncover current gaps, and shed light on key areas shaping its future.
Deep learning-based approaches to genomic instability assessment can help overcome the limitations of current methods and maximize insights from tumor samples.
In this Spotlight session, Dr.Elena Repetti, Chief of Medical Genetics of TomaLab in Italy shares with us TomaLab’s mission in healthcare, their experience using SOPHiA GENETICS’s solutions as well as the company’s vision for the future and the partnership with SOPHiA GENETICS.
This guide deciphers the jargon associated with machine learning in healthcare and explains why artificial intelligence is invaluable to revolutionize the capabilities of HCPs in improving patient care.
Hospices Civils de Lyon in France share their insights from 5 years of experience using NGS for the molecular diagnosis of inherited cardiac diseases.
Understand the HGVS recommendations with this sequence variant nomenclature guide that includes visual examples.
Discover how Dr. Mohamed Z Alimohamed used Alamut™️ to develop a decision tree for the prioritization of potential RNA splice variants in cardiomyopathy genes.
Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome 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.
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.