The power of multimodal data-driven medicine
Capturing the complexity of human health and disease through machine learning analysis of multimodal data has the potential to drive the future of healthcare.
Liquid biopsy analysis: Screening for clinically relevant information
Liquid biopsy is revolutionizing precision oncology with a non-invasive approach to tumor profiling. In this blog, we explore its clinical applications and why the right analytical technologies are needed when searching in a sea of genomic data.
Application Note: SOPHiA DDM™ Community Clonality Solution CLL
Streamlined workflow for Chronic Lymphocytic Leukemia study
Cascade testing in hereditary cancer: analyzing genetic predisposition for early detection
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?
Navigating Precision Medicine: The role of Companion Diagnostics
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.
The Era of precision medicine: A paradigm shift in healthcare
Explore the realm of precision medicine as we define its significance, uncover current gaps, and shed light on key areas shaping its future.
Optimizing genomic instability assessment in cancer
Deep learning-based approaches to genomic instability assessment can help overcome the limitations of current methods and maximize insights from tumor samples.
Customer Spotlight : Dr.Elena Repetti – TomaLab Advanced Biomedical Assays
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.
Demystifying machine learning in healthcare: a layman’s guide to understanding the technology
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.
Article Spotlight: NGS for investigating cardiac disease
Hospices Civils de Lyon in France share their insights from 5 years of experience using NGS for the molecular diagnosis of inherited cardiac diseases.
A beginner’s guide to mutation nomenclature using the HGVS recommendations
Understand the HGVS recommendations with this sequence variant nomenclature guide that includes visual examples.
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.
