BWTaligner: a genome short-read aligner

Vietnam Journal of Science and Technology(2018)

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摘要
The development of next-generation sequencing technologies has helped sequence large genomes easily, producing a huge number of short-reads - small fragments of DNA. Despite the existence of many developed alignment tools, mapping short-read datasets to the reference genome, a crucial step of genome analysis, still remains a challenge. In this study, we develop a short-read alignment program, BWTaligner, based on the Burrows-Wheeler transform compression - exact and inexact matching. We tested it on the paired-end read data simulated from chromosome 9 of the rice genome to compare the alignment and single-nucleotide polymorphism (SNP) calling between our aligner and BWA - the preferred alignment program. The results showed that the BWA delivers higher recall and F-score, while BWTaligner has better precision in high coverage depth. DOI: https://doi.org/10.31276/VJSTE.60(2).73
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关键词
Burrows-Wheeler transform,high-throughput sequencing,paired-end short reads,sequence alignment
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