Results for "sequencing"

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  • poRe: an R package for the visualization and analysis of nanopore sequencing data

    Motivation: The Oxford Nanopore MinION device represents a unique sequencing technology. As a mobile sequencing device powered by the USB port of a laptop, the MinION has huge potential applications. To enable these applications, the bioinformatics community will need to design and build a s...

    Tags: poRe, R, package, visualization, analysis, nanopore, sequencing, data

    2349 days ago

  • INC-Seq: accurate single molecule reads using nanopore sequencing

    INC-Seq reads enabled accurate species-level classification, identification of species at 0.1 % abundance and robust quantification of relative abundances, providing a cheap and effective approach for pathogen detection and microbiome profiling on the MinION system.

    Tags: INC-Seq, accurate, single, molecule, reads, nopore, sequencing

    2345 days ago

  • AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing

    AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to ∼98% reduction of false variants when combined to conventional public pipelines and ∼48% to the in-hou...

    Tags: AIRVF, filtering, toolbox, precise, variant, calling, Ion, Torrent, sequencing

    2320 days ago

  • Magic-BLAST: a tool for mapping large next-generation RNA or DNA sequencing runs against a whole genome or transcriptome.

    Magic-BLAST is a tool for mapping large next-generation RNA or DNA sequencing runs against a whole genome or transcriptome. Each alignment optimizes a composite score, taking into account simultaneously the two reads of a pair, and in case of RNA-seq, locating the candidate introns and adding up ...

    Tags: Magic-BLAST, mapping, next-generation, RNA, DNA, sequencing, whole, genome, transcriptome.

    2315 days ago

  • Ra assembler - a de novo DNA assembler for third generation sequencing data

    Integration of the Ra assembler - a de novo DNA assembler for third generation sequencing data developed on Faculty of Electrical Engineering and Computing (FER), Ruder Boskovic Institute (RBI) and Genome Institute of Singapore (GIS). Ra is in development since 2014 in the form of several separa...

    Tags: Ra, assembler, de novo, DNA, assembler, third, generation, sequencing, assembly

    2314 days ago

  • TelomereHunter

    TelomereHunter is a tool for estimating telomere content from human whole-genome sequencing data. It is designed to take BAM files from a tumor and a matching control sample as input. However, it is also possible to run TelomereHunter with one input file. TelomereHunter extracts and sorts telomer...

    Tags: TelomereHunter, tool, telomere, human, whole-genome, sequencing

    2278 days ago

  • Heap: a highly sensitive and accurate SNP detection tool for low-coverage high-throughput sequencing data

    Heap, that enables robustly sensitive and accurate calling of SNPs, particularly with a low coverage NGS data, which must be aligned to the reference genome sequences in advance. To reduce false positive SNPs, Heap determines genotypes and calls SNPs at each site except for sites at the both end ...

    Tags: Heap, sensitive, accurate, SNP, detection, tool, low-coverage, high-throughput, sequencing, data

    2202 days ago

  • ALPACA: A hybrid strategy for assembly of genomic DNA shotgun sequencing reads.

    ALPACA requires Celera Assembler 8.3 or later. It is recommended to build Celera Assembler from source. (Why? The pre-built binaries CA_8.3rc1 and CA8.3rc2 will work for any large data set.  Detail paper at https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-017-3927-8

    Tags: ALPACA, hybrid, strategy, assembly, genomic, DNA, shotgun, sequencing, reads

    2191 days ago

  • Flye: Fast and accurate de novo assembler for single molecule sequencing reads

    Flye is a de novo assembler for long and noisy reads, such as those produced by PacBio and Oxford Nanopore Technologies. The algorithm uses an A-Bruijn graph to find the overlaps between reads and does not require them to be error-corrected. After the initial assembly, Flye performs an extra repe...

    Tags: Flye, de novo, assembler, ONT, Nanopore, PacBio, Assembly, single, molecule, sequencing, reads

    2186 days ago

  • HISAT2: a fast and sensitive alignment program for mapping next-generation sequencing reads

    HISAT2 is a fast and sensitive alignment program for mapping next-generation sequencing reads (both DNA and RNA) to a population of human genomes (as well as to a single reference genome). Based on an extension of BWT for graphs [Sirén et al. 2014], we designed and implemented a ...

    Tags: HISAT2, fast, sensitive, alignment, program, mapping, next-generation, sequencing, reads, tools

    2183 days ago