作者
Jinchen Li, Tingting Zhao, Yi Zhang, Kun Zhang, Leisheng Shi, Yun Chen, Xingxing Wang, Zhongsheng Sun
发表日期
2018/9/6
期刊
Nucleic acids research
卷号
46
期号
15
页码范围
7793-7804
出版商
Oxford University Press
简介
With expanding applications of next-generation sequencing in medical genetics, increasing computational methods are being developed to predict the pathogenicity of missense variants. Selecting optimal methods can accelerate the identification of candidate genes. However, the performances of different computational methods under various conditions have not been completely evaluated. Here, we compared 12 performance measures of 23 methods based on three independent benchmark datasets: (i) clinical variants from the ClinVar database related to genetic diseases, (ii) somatic variants from the IARC TP53 and ICGC databases related to human cancers and (iii) experimentally evaluated PPARG variants. Some methods showed different performances under different conditions, suggesting that they were not always applicable for different conditions. Furthermore, the specificities were lower than the …
引用总数
2018201920202021202220232024326383652299
学术搜索中的文章
J Li, T Zhao, Y Zhang, K Zhang, L Shi, Y Chen, X Wang… - Nucleic acids research, 2018