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Article

Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.

BMC medical genomics - 6 Jun 2026

Vidal-Folch Noemi, Stout Christian, Winters Jennifer, Oglesbee Devin, Hasadsri Linda, Cook Sara L

Abstract excerpt

BACKGROUND: Most spinal muscular atrophy (SMA) carrier screening assays quantify SMN1 exon 7 copy number, providing limited information about the prevalence or structure of SMN1-SMN2 hybrid alleles generated through gene conversion. As long-read sequencing (LRS) studies begin to resolve these alleles at high resolution, typically in modest cohorts, large population-scale data remain essential for defining the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Source

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Identifiers

PMID: 42251298
DOI: 10.1186/s12920-026-02406-6
PMCID: PMC13483628

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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