<h1>Novel Basic Carrier Test - Detection of SMA by discrimination of *SMN1* & *SMN2* using long-read sequencing (ONT) & artificial intelligence (AI)</h1>
- shared.published_on: May 19 2023
SMA, a progressive, recessive neuromuscular disease with varying presentations of onset and severity, is caused by bi-allelic mutations in the SMN1 gene (deletion of the gene in 95% of the cases). The severity is determined by the number of SMN2 copies. SMN1 and SMN2 only have 5 different nucleotides in the whole sequence. Due to its high clinical and genetic heterogeneity and low prevalence (1/10,000 births), diagnosis and treatment are highly challenging.
