TAILIEUCHUNG - BWTaligner: a genome short-read aligner

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. | LIFE SCIENCES BIOTECHNOLOGY BWTaligner a genome short-read aligner Lam Nguyen1 Xuan Thi Trinh2 Hien Trinh3 Dang Hung Tran4 Cuong Nguyen1 1Vinmec Research Institute of Stem Cell and Gene Technology 2Faculty of Information Technology Hanoi Open University 3Laboratory of Genetic Engineering Institute of Biotechnology Vietnam Academy of Science and Technology 4Hanoi National University of Education Received 6 April 2018 accepted 15 May 2018 Abstract 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-nucleo-tide 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. Keywords Burrows-Wheeler transform high-throughput sequencing paired-end short reads sequence alignment. Classification number Corresponding author Email vcuongn@ Introduction The development of massive parallel sequencing technologies has stimulated the production of a vast number of short-reads which are small fragments of DNA genomes. As the mapping of short-read datasets to large genomes presents a huge challenge to the existing sequencing programs more and more algorithms are being improved in order to reduce the execution time and increase the mapping accuracy. At the outset hash table-based methods either hash the short-read sequences or the reference genome and many alignment tools .

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