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

    2891 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

    2794 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

    2705 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

    2687 days ago

  • JASMINE: Jointly Accurate Sv Merging with Intersample Network Edges

    This tool is used to merge structural variants (SVs) across samples. Each sample has a number of SV calls, consisting of position information (chromosome, start, end, length), type and strand information, and a number of other values. Jasmine represents the set of all SVs across samples as a netw...

    Tags: JASMINE, Accurate, SV, Merging, Intersample, Network, Edges, structural, variants

    657 days ago

  • Severus: a somatic structural variation (SV) caller for long reads

    Severus is a somatic structural variation (SV) caller for long reads (both PacBio and ONT). It is designed for matching tumor/normal analysis, supports multiple tumor samples, and produces accurate and complete somatic and germline calls. Severus takes advantage of long-read phasing and uses the ...

    Tags: Severus, somatic, structural, variation, SV, caller, long reads

    20 days ago

  • Minda: a tool for evaluating structural variant (SV) callers

    Minda is a tool for evaluating structural variant (SV) callers that standardizes VCF records for compatibility with both germline and somatic SV callers, benchmarks against a single VCF input file, or benchmarks against an ensemble call set created from multiple VCF input files.

    Tags: Minda, tool, evaluating, structural, variant, SV, callers

    20 days ago