Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing.

ABSTRACT: Newborn screening (NBS) assays for spinal muscular atrophy (SMA) typically use a polymerase chain reaction (PCR) based assay to identify individuals with homozygous deletion in exon 7 of the SMN1 gene. Due to high DNA sequence homology between SMN1 and SMN2, it has previously been difficult to accurately bioinformatically map short reads from next-generation DNA sequencing (NGS) to SMN1, resulting in low analytical performance and preventing NGS being used for SMA screening. Advances in bioinformatics have allowed NGS to be used in diagnostic settings, but to date these assays have not reached the scale required for high volume population newborn screening and have not been performed on the dried blood spot samples that NBS programs currently use. Here we integr

SUBMITTER: Shum BOV 

PROVIDER: S-EPMC9878289 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature