However, significant limitations compromising the possibility to accurately estimate FDR in this ES dataset were: the absence of separated tests performed for challenging genes (e.g., deletions in SMN1 causing spinal muscular atrophy); the failure to truly reflect the carrier rates of the individuals who seek carrier screening; and, most importantly, the analysis was limited to a pre-selected list of 415 genes associated with autosomal severe recessive conditions. The gene discussed is SMN1; the disease is spinal muscular atrophy.