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.
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™ 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.