A More Clinically Effective Long-read Sequencing-based Approach for Comprehensive Analysis of Spinal Muscular Atrophy

Conventional methods for spinal muscular atrophy (SMA) screening have been challenging in detecting SMN1/2 single-nucleotide variants (SNVs) and small insertions and deletions (indels), SMN1 2+0 silent carrier, and the copy number (CN) of SMN2. To address these limitations, a long-read sequencing (LRS)-based approach termed comprehensive analysis of SMA 2 (CASMA2) was developed. CASMA2 performed CN analysis by integrating Poisson distribution with endogenous reference gene—the first such method developed for LRS platforms.