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Article

Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening.

The Journal of molecular diagnostics : JMD - 1 May 2020

Liu Bo, Lu Yulan, Wu Bingbing, Yang Lin, Liu Renchao, Wang Huijun, Dong Xinran, Li Gang, Qin Qian, Zhou Wenhao

Abstract excerpt

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death, influenced by the copy number of two highly homologous genes: SMN1 and SMN2. Although exome sequencing is widely applied for genetic testing, SMA diagnosis and carrier screening have not been incorporated in routine data analysis and lack evaluation in clinical applications. We established a workflow for the SMN gene copy number analysis...

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Identifiers

PMID: 32092542
DOI: 10.1016/j.jmoldx.2020.01.015

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