Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing

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 exome sequencing data analysis and lack evaluation in clinical applications. We established a workflow for the SMN gene copy number analysis based on uniquely mapped reads on exon 7 of SMN genes and the control region.

Source: Journal of Molecular Diagnostics - February 20, 2020 Category: Pathology Authors: Bo Liu, Yulan Lu, Bingbing Wu, Lin Yang, Renchao Liu, Huijun Wang, Xinran Dong, Gang Li, Qian Qin, Wenhao Zhou Tags: Regular article Source Type: research