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Article

Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument.

Scientific reports - 16 Nov 2020

Jiang Lingxia, Lin Robert, Gallagher Steve, Zayac Andrew, Butchbach Matthew E R, Hung Paul

Abstract excerpt

Digital PCR (dPCR) technology has been proven to be highly sensitive and accurate in detecting copy number variations (CNV). However, a higher-order multiplexing dPCR assay for measuring SMN1 and SMN2 copy numbers in spinal muscular atrophy (SMA) samples has not been reported. Described here is a rapid multiplex SMA dPCR genotyping assay run on a fully integrated dPCR instrument with five optical channels. The...

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Identifiers

PMID: 33199817
DOI: 10.1038/s41598-020-76893-7
PMCID: PMC7670453

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