Ontology highlight
ABSTRACT:
SUBMITTER: Chen Z
PROVIDER: S-EPMC7493351 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Chen Zefu Z Yan Zihui Z Yu Chenxi C Liu Jiaqi J Zhang Yanbin Y Zhao Sen S Lin Jiachen J Zhang Yuanqiang Y Wang Lianlei L Lin Mao M Huang Yingzhao Y Li Xiaoxin X Niu Yuchen Y Wang Shengru S Wu Zhihong Z Qiu Guixing G Zhang Terry Jianguo TJ Wu Nan N
Orphanet journal of rare diseases 20200915 1
<h4>Background</h4>We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScore), a multivariate phenotype-based model to predict TACS according to the patient's clinical manifestations. In this study, we aimed to evaluate whether using the TACScore as a screening method prior to performing whole-exome sequencing (WES) is more cost-effective tha ...[more]