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.
analytics
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.
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.
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.
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.
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.
The Launch of SOPHiA DDM™ Dispatch
SOPHiA GENETICS is excited to announce the launch of SOPHiA DDM™ Dispatch, a new way for our SOPHiA GENETICS Integrated Access partner labs to work with their clients. SOPHiA DDM™ Dispatch make its it easier to work with clients directly and control logistics within your lab.
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.