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Case Report: Resolving a Diagnostic Odyssey in Spinal Muscular Atrophy Using HiFi Long-Read Whole Genome Sequencing

2026-05-27

Abstract excerpt

Compound heterozygous SMN1 genotypes account for approximately 5% of spinal muscular atrophy (SMA) cases but are difficult to detect using conventional short-read sequencing due to near-identical homology between SMN1 and its paralog SMN2. We describe a patient with a decade-long diagnostic odyssey in whom whole exome and short-read whole genome sequencing failed to establish a diagnosis, despite a single SMN1...

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Literature Corpus work: 1b8960d9-bc79-57d3-9e3e-f0af8081300a
DOI: 10.12688/wellcomeopenres.26627.1

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