AUTHOR=Cui Yunlong , Li Hongfeng , Liu Pengfei , Wang Hailong , Zhang Zhenzhen , Qu Hongzhu , Tian Caijuan , Fang Xiangdong
TITLE=DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research
JOURNAL=Frontiers in Genetics
VOLUME=13
YEAR=2023
URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1118183
DOI=10.3389/fgene.2022.1118183
ISSN=1664-8021
ABSTRACT=Background: Genetic testing is becoming more and more accepted in the auxiliary diagnosis and treatment of tumors. Due to the different performance of the existing bioinformatics software and the different analysis results, the needs of clinical diagnosis and treatment cannot be met. To this end, we combined Bayesian classification model (BC) and fisher exact test (FET), and develop an efficient software DeteX to detect SNV and InDel mutations. It can detect the somatic mutations in tumor-normal paired samples as well as mutations in a single sample.
Methods: Combination of Bayesian classification model (BC) and fisher exact test (FET).
Results: We detected SNVs and InDels in 11 TCGA glioma samples, 28 clinically targeted capture samples and 2 NCCL-EQA standard samples with DeteX, VarDict, Mutect, VarScan and GatkSNV. The results show that, among the three groups of samples, DeteX has higher sensitivity and precision whether it detects SNVs or InDels than other callers and the F1 value of DeteX is the highest. Especially in the detection of substitution and complex mutations, only DeteX can accurately detect these two kinds of mutations. In terms of single-sample mutation detection, DeteX is much more sensitive than the HaplotypeCaller program in Gatk. In addition, although DeteX has higher mutation detection capabilities, its running time is only .609 of VarDict, which is .704 and .343 longer than VarScan and MuTect, respectively.
Conclusion: In this study, we developed DeteX to detect SNV and InDel mutations in single and paired samples. DeteX has high sensitivity and precision especially in the detection of substitution and complex mutations. In summary, DeteX from NGS data is a good SNV and InDel caller.