Results for "SV"
Tags
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
2895 days ago
- 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
2798 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
2709 days ago
- 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
2691 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
2691 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
2596 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
661 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
23 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
23 days ago
