Understand the HGVS recommendations with this sequence variant nomenclature guide that includes visual examples.
A beginner’s guide to mutation nomenclature using the HGVS recommendations
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Alamut
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.
What’s New? March 2021
Newsletter updates for March 2021