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A dual-mode targeted Nanopore sequencing assay for comprehensive<i>SMN1</i>and<i>SMN2</i>variant analysis

2024-02-23

Abstract excerpt

<h4>Background</h4> Spinal Muscular Atrophy (SMA) is one of the most common recessive disorders for which several life-saving treatment options are currently available. It is essential to establish universal SMA screening and diagnostic programs using scalable, cost-effective and accessible platforms to accurately identify all variation types, which is complicated by homologous SMN1 and SMN2 genes. <h4>Metho...

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Literature Corpus work
ea5306a6-95a5-51b8-b8ca-875d01e527fa
DOI
10.1101/2024.02.22.24303180
Open publication

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