Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Sha HongLi WangDongying ZhaoYonghong ZhangYan ChenJintong TanLili LiangTianwen ZhuPublished in: Molecular genetics & genomic medicine (2019)
This study provides evidence that NGS can yield high success rates in a tertiary pediatric setting, but suggests that the scope of known Mendelian conditions may be considerably broader than currently recognized.