Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.

Background Spinal muscular atrophy( SMA) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, SMN1. Most chromosome 5 homologs have a functional gene and dysfunctional copy, SMN2, with a single synonymous base substitution that results in faulty RNA splicing. However, the copy number of SMN1and SMN2 is highly variable, and one in 60 adults worldwide are SMAcarriers. Although population-wide screening is recommended, current SMA carrier testshave not been incorporated into targeted gene panels.