We recently sat down to talk with Katherine Lafferty, MS, CGC about how Alamut™ Visual Plus helps her overcome the variant interpretation challenges she encounters in her work as a variant analyst. Read our discussion.
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 splice variants in cardiomyopathy genes.
Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome 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.
Newsletter updates for March 2021
