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

12 Jan 2023

Abstract excerpt

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...

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PMID: 36713073
DOI: 10.3389/fgene.2023.1095600

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