Our Technical Note outlines the guidelines and standards behind the nomenclature convention deployed in Alamut™ Visual Plus. We also explain how Alamut™ Visual Plus applies them to ensure that variant annotation follows the universally applied standards for variant analysis.
Hospices Civils de Lyon in France share their insights from 5 years of experience using NGS for the molecular
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
Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial
Read our descriptive guide to the HGVS nomenclature standard, genome reference assemblies, and MANE transcripts and how they are
Did you miss our ASHG symposium? Don’t fret! Read our recap of how renowned genomic experts saved time, reduced
Our platform has analyzed over 1 million genomic profiles, we chatted with some experts to see how this data
Read our SOPHiA DDM™️ Dx ROS performance evaluation study and make confident data-driven decisions that improve patient care.
Studies show that as few as 10% of people living with familial hypercholesterolemia (FH) could be aware of their
Last week we attended the European Society for Medical Oncology (ESMO) Congress 2022, gathering the world's leading oncologists. Read
Whole exome sequencing can present a goldilocks option between targeted gene panels and whole genome sequencing. Dive into some
Read about our successful collaborations, Dr Terracciano’s favorite SOPHiA DDM™ features, and what she sees in the future for
