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SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data

14 Oct 2020

Abstract excerpt

Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2, and the complexity of the SMN locus makes the estimation of the SMN1 copy-number by next-generation sequencing (NGS) very...

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PMID: 33058415
DOI: 10.1002/humu.24120

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