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Updated: Nov 26, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
A Fusion Method Based on Alignment Software with SNP and Indel Detection Methods
Guobing Chen1, Chao Tang2, Jun Qi2
1Chongqing Key Laboratory of Spatial Data Mining and Big Data Integration for Ecology and Environment, Rongzhi College of Chongqing Technology and Business University , Chongqing 401320,China.
Background:
With the advent of the second-generation sequencing technology, the discovery of sequence alignment and sequence variation is a long-standing challenge Methods: A method based on general alignment software, SNP, and Indel software tools was proposed in this paper. By comparing the advantages of traditional alignment software, we can produce the best alignment.
Results:
SNP and Indel detection tools fusion research found that different depth of sequencing effect is different. When the sequence depth reaches a certain value, one of the softwares is selected for testing Conclusion: Finally, the experimental verification shows that SNP and Indel have certain advantages in comparing the effects of the fusion method.
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