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Open AccessJournal ArticleDOI

NextGenMap: Fast and accurate read mapping in highly polymorphic genomes

TLDR
NextGenMap is reported, a fast and accurate read mapper, which aligns reads reliably to a reference genome even when the sequence difference between target and reference genome is large, i.e. highly polymorphic genome.
Abstract
Summary: When choosing a read mapper, one faces the trade off between speed and the ability to map reads in highly polymorphic regions. Here, we report NextGenMap, a fast and accurate read mapper, which reduces this dilemma. NextGenMap aligns reads reliably to a reference genome even when the sequence difference between target and reference genome is large, i.e. highly polymorphic genome. At the same time, NextGenMap outperforms current mapping methods with respect to runtime and to the number of correctly mapped reads. NextGenMap efficiently uses the available hardware by exploiting multi-core CPUs as well as graphic cards (GPUs), if available. In addition, NextGenMap handles automatically any read data independent of read length and sequencing technology. Availability: NextGenMap source code and documentation are available at: http://cibiv.github.io/NextGenMap/ Contact: fritz.sedlazeck@univie.ac.at Supplementary information: Supplementary data are available at Bioinformatics online.

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Citations
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Journal ArticleDOI

Accurate detection of complex structural variations using single-molecule sequencing.

TL;DR: NGMLR and Sniffles perform highly accurate alignment and structural variation detection from long-read sequencing data and can automatically filter false events and operate on low-coverage data, thereby reducing the high costs that have hindered the application of long reads in clinical and research settings.
Journal ArticleDOI

DNA methylation in Arabidopsis has a genetic basis and shows evidence of local adaptation

TL;DR: Investigation of DNA methylation variation in Swedish Arabidopsis thaliana accessions grown at two different temperatures finds that accessions from colder regions had higher levels of GBM for a significant fraction of the genome, and this was associated with increased transcription for the genes affected.
Journal ArticleDOI

Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.

TL;DR: It is shown that copy number variants (CNVs) show a variety of genetic signals consistent with rapid turnover and make substantial contributions to quantitative traits, most notably intracellular amino acid concentrations, growth under stress and sugar utilization in winemaking, whereas rearrangements are strongly associated with reproductive isolation.
References
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Mason – A Read Simulator for Second Generation Sequencing Data

TL;DR: A read simulator software for Illumina, 454 and Sanger reads that has been written with performance in mind and can sample reads from large genomes.
Journal ArticleDOI

Adenosine deaminases that act on RNA induce reproducible changes in abundance and sequence of embryonic miRNAs

TL;DR: Most editing events in miRNAs are ADARB1-dependent with only few editing sites being specifically edited by ADAR, and a few novel, previously unknown editing events were identified.
Journal ArticleDOI

Advanced Methylome Analysis after Bisulfite Deep Sequencing: An Example in Arabidopsis

TL;DR: BiSS (Bisufite Sequencing Scorer), a new method applying Smith-Waterman alignment to map bisulfite-converted reads to a reference genome, provides an estimate of the methylation degree at each genomic site and introduces a comprehensive adaptive error estimate.
Proceedings ArticleDOI

MASon: MILLION ALIGNMENTS IN SECONDS - A Platform Independent Pairwise Sequence Alignment Library for Next Generation Sequencing Data

TL;DR: A C++ library that exploits graphic cards and CPU vector instructions to efficiently handle millions of short local pairwise sequence alignments (36bp - 1,000bp) and can be easily integrated into existing and upcoming NGS applications and allow programmers to optimally utilize modern hardware.
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