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 genom...

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Main Authors: Lam Nguyen, Xuan Thi Trinh, Hien Trinh, Dang Hung Tran, Cuong Nguyen
Format: Article
Language:English
Published: Vietnam Ministry of Science and Technology 2018-06-01
Series:Vietnam Journal of Science, Technology and Engineering
Subjects:
Online Access:https://vietnamscience.vjst.vn/index.php/vjste/article/view/246
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author Lam Nguyen
Xuan Thi Trinh
Hien Trinh
Dang Hung Tran
Cuong Nguyen
author_facet Lam Nguyen
Xuan Thi Trinh
Hien Trinh
Dang Hung Tran
Cuong Nguyen
author_sort Lam Nguyen
collection DOAJ
description 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.
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spelling doaj.art-3fc4c0ef726948079c3b04d1f9f8ee442023-02-01T08:20:34ZengVietnam Ministry of Science and TechnologyVietnam Journal of Science, Technology and Engineering2525-24612615-99372018-06-0160210.31276/VJSTE.60(2).73BWTaligner: a genome short-read alignerLam Nguyen0Xuan Thi Trinh1Hien Trinh2Dang Hung Tran3Cuong Nguyen4Vinmec Research Institute of Stem Cell and Gene TechnologyFaculty of Information Technology, Hanoi Open UniversityLaboratory of Genetic Engineering, Institute of Biotechnology, Vietnam Academy of Science and TechnologyHanoi National University of EducationVinmec Research Institute of Stem Cell and Gene Technology 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. https://vietnamscience.vjst.vn/index.php/vjste/article/view/246Burrows-Wheeler transformhigh-throughput sequencingpaired-end short readssequence alignment
spellingShingle Lam Nguyen
Xuan Thi Trinh
Hien Trinh
Dang Hung Tran
Cuong Nguyen
BWTaligner: a genome short-read aligner
Vietnam Journal of Science, Technology and Engineering
Burrows-Wheeler transform
high-throughput sequencing
paired-end short reads
sequence alignment
title BWTaligner: a genome short-read aligner
title_full BWTaligner: a genome short-read aligner
title_fullStr BWTaligner: a genome short-read aligner
title_full_unstemmed BWTaligner: a genome short-read aligner
title_short BWTaligner: a genome short-read aligner
title_sort bwtaligner a genome short read aligner
topic Burrows-Wheeler transform
high-throughput sequencing
paired-end short reads
sequence alignment
url https://vietnamscience.vjst.vn/index.php/vjste/article/view/246
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AT danghungtran bwtaligneragenomeshortreadaligner
AT cuongnguyen bwtaligneragenomeshortreadaligner