Results for "SV"

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  • Hagfish - assess an assembly through creative use of coverage plots

    Hagfish is a tool that is to be used in data analysis of Next Generation Sequencing (NGS) experiments. Hagfish builds on the concept of coverage plots and aims to assist (amongst others) in quality control of de novo genome assembly or identification of structural variation in a genome ...

    Tags: Bioinformatics, Hagfish, Assess, Assembly, Coverage, Plots, NGS, Structure, Variation, SV, Assembly, Genome

    368 days ago

  • LUMPY

    A probabilistic framework for structural variant discovery. Ryan M Layer, Colby Chiang, Aaron R Quinlan, and Ira M Hall. 2014. "LUMPY: a Probabilistic Framework for Structural Variant Discovery." Genome Biology 15 (6): R84. doi:10.1186/gb-2014-15-6-r84. More at https://github.com/arq5...

    Tags: Bioinformatics, Analysis, NGS, Lumpy, SV, Variation, Structure, Genome

    271 days ago

  • Maq: Mapping and Assembly with Quality

    Maq stands for Mapping and Assembly with Quality It builds assembly by mapping short reads to reference sequences. Maq is a project hosted by SourceForge.net. The project page is available athttp://sourceforge.net/projects/maq/. Maq is previously known as mapass2. Run Maq Now...

    Tags: Bioinformatics, Maq, Variation, Mapping, Quality, Reads, SV, NGS, Genome

    183 days ago

  • PRISM

    PRISM is a software for split read (reads which span across a structrual variant -- SV ) mapping and SV calling from the mapping result. PRISM is able to detect small insertions and abitrary size deletions, inversions and tandom duplications with the direction of discordant read pairs. PRISM_CTX ...

    Tags: Bioinformatics, Comparative genomics, Genomics, Structure Variation, SV, NGS

    164 days ago

  • Why BreakDancer does not displays the amount of reads supporting SV?

    Using breakdancer the output consists of DEL, INV, INS, CTX and ITX. Using following commands: bam2cfg.pl -g -h dis.bam normal.bam > config_file.cfgbreakdancer_max -d test config_file.cfg > dis_normal.ctx the 11th output column should displays the amount of reads supporting the called SV ...

    Tags: Bioinformatics, SV, BreakDancer, Reads, Depth

    164 days ago

  • Software and Tools to detect structure variation with long reads !!

    Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio de novo assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs ...

    Tags: Bioinformatics, LR, Long, Reads, Tools, Software, Pacbio, Genome, DNA, Sequence, NGS, SV, Variation, Structure

    69 days ago