Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).

Sen ZhaoYuanqiang ZhangWeisheng ChenWeiyu LiShengru WangLianlei WangYanxue ZhaoMao LinYongyu YeJiachen LinYu ZhengJiaqi LiuHengqiang ZhaoZihui YanYongxin YangYingzhao HuangGuanfeng LinZefu ChenZhen ZhangSen LiuLichao JinZhaoyang WangJingdan ChenYuchen NiuXiaoxin LiYong WuYipeng WangRenqian DuNa GaoHong ZhaoYing YangYing LiuYe TianWenli LiYu ZhaoJia LiuBin YuNa ZhangKeyi YuXu YangShugang LiYuan XuJianhua HuZhe LiuJianxiong ShenShuyang ZhangJianzhong SuAnas M KhanshourYared H KidaneBrandon RamoJonathan J Rios Pengfei LiuV Reid SuttonJennifer E PoseyZhihong WuGuixing QiuCarol A WiseFeng ZhangJianguo ZhangNan Wunull null

Published in: Journal of medical genetics (2020)

ES enabled the molecular diagnosis/classification of patients with EOS. Specific clinical features/feature pairs are able to indicate the likelihood of gaining a molecular diagnosis through ES.

Keyphrases

early onset
late onset
machine learning
deep learning
single cell
single molecule
copy number