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.
Yanming FengXiaoyan GeLinyan MengJennifer ScullJianli LiXia TianTao ZhangWeihong JinHanyin ChengXia WangMari TokitaPengfei LiuHui MeiYue WangFangyuan LiEric S SchmittWei V ZhangDonna MuznyShu WenZhao ChenYaping YangArthur L BeaudetXiaoming LiuChristine M EngFan XiaLee-Jun WongJinglan ZhangPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
We have developed a novel, comprehensive SMN1 copy-number and sequence variant analysis method by NGS that demonstrated improved SMA carrier detection rates across the entire population examined.Genet Med advance online publication 19 January 2017.