Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes. These genes, that are associated with spinal muscular atrophy (SMA), only differ by a single nucleotide, which requires any copy number solution to have very high assay specificity.

For researchers focused on Alzheimer’s disease, identifying their samples as APOE allele type E2, E3, or E4 is of the utmost importance. Testing samples for APOE status can build a cohort that separates the low-risk E2 allele from the high-risk E4 allele. 

The Novallele™ copy number and genotyping assays are designed to give researchers a simple method to investigate difficult-to-analyze genetic changes. The Novallele assays generate accurate data using a simple protocol that returns results in around an hour. During the webinar, we will discuss the protocol in more detail, including scientific principles, assay workflows, and data analysis.