Article
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2017
Feng Yanming, Ge Xiaoyan, Meng Linyan, Scull Jennifer, Li Jianli, Tian Xia, Zhang Tao, Jin Weihong, Cheng Hanyin, Wang Xia, Tokita Mari, Liu Pengfei, Mei Hui, Wang Yue, Li Fangyuan, Schmitt Eric S, Zhang Wei V, Muzny Donna, Wen Shu, Chen Zhao, Yang Yaping, Beaudet Arthur L, Liu Xiaoming, Eng Christine M, Xia Fan, Wong Lee-Jun, Zhang Jinglan
Abstract excerpt
PURPOSE: To investigate pan-ethnic SMN1 copy-number and sequence variation by hybridization-based target enrichment coupled with massively parallel sequencing or next-generation sequencing (NGS). METHODS: NGS reads aligned to SMN1 and SMN2 exon 7 were quantified to determine the total combined copy number of SMN1 and SMN2. The ratio of SMN1 to SMN2 was calculated based on a single-nucleotide difference that...
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