Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.

Jing HeWenhui SongJinlong YangSen LuYuan YuanJunfu GuoJie ZhangKai YeFan Yang Fangfang LongZhiyu PengHaijing YuLe ChengBaosheng Zhu

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)

Methodological comparisons demonstrate the superiority of NGS for both sensitivity and specificity, provide a comprehensive assessment of thalassemia screening strategies, and indicate that NGS is a competitive screening method, especially among populations with a high prevalence of disease.Genet Med advance online publication 26 January 2017.

Keyphrases

sickle cell disease
risk factors
gene expression
social media
genome wide
circulating tumor