Whole-exome sequencing improves genetic testing accuracy in pulmonary artery hypertension.

ABSTRACT: Sanger sequencing, the traditional "gold standard" for mutation detection, has been wildly used in genetic testing of pulmonary artery hypertension (PAH). However, with the advent of whole-exome sequencing (WES), few studies have compared the accuracy of WES and Sanger sequencing in routine genetic testing of PAH. PAH individuals were enrolled from Fu Wai Hospital and Shanghai Pulmonary Hospital. WES was used to analyze DNA samples from 120 PAH patients whose bone morphogenetic protein receptor type 2 (BMPR2) mutation statuses had been previously studied using Sanger sequencing. The Sanger sequencing and WES agreement was 98.3% (118/120) with near-perfect agreement (κ coefficient = 0.848). There was no significant difference between the two methods on the McNemar-Bowker test ( P > 0.05). T

SUBMITTER: Zeng X 

PROVIDER: S-EPMC5858635 | biostudies-literature | 2018 Apr-Jun

REPOSITORIES: biostudies-literature