Results for "variation"
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Great source to learn genetics and other relevant stuffs online.Tags: genetics, epigenetics, variation
3663 days ago
- Variation graphs provide a succinct encoding of the sequences of many genomes. A variation graph (in particular as implemented in vg) is composed of: nodes, which are labeled by sequences and ids edges, which connect two nodes via either of their respective ends paths, describe genomes,...
Tags: VG, variation, graph, structures, interchange, formats, alignment, genotyping, variant, calling, methods, snp
1544 days ago
SvABA: Structural variation and indel detection by local assembly
SvABA is a method for detecting structural variants in sequencing data using genome-wide local assembly. Under the hood, SvABA uses a custom implementation of SGA (String Graph Assembler) by Jared Simpson, and BWA-MEM by Heng Li. Contigs are assembled for every 25kb window (wi...Tags: SvABA, Structural, variation, indel, detection, local, assembly
1501 days ago
JBrowse 2: a modular genome browser with views of synteny and structural variation
igvjs - a create-react-app with igv package from npm installed. the igv.js is instrumented to output "DONE" to the console when finished, and to have an increased fetchSizeLimit (which is otherwise git in CRAM longread tests) jb2-web - stock instance of jbrowse-web v1.7.5 jb1 - stock instance...Tags: JBrowse, modular, genome, browser, views, synteny, structural, variation
360 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
- Ultrafast and accurate nucleotide-resolution analysis of structural variants More at http://bioinform.github.io/breakseq2/ Download BreakSeq2 Latest version: https://github.com/bioinform/breakseq2/archive/2.2.tar.gzFor other versions, see "releases". https://github.com/bioinform/breakseq2/rele...
Tags: Bioinformatics, Computational Biology, Variation, Structure, BreakSeq2
2972 days ago
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
- Genome STRiP (Genome STRucture In Populations) is a suite of tools for discovering and genotyping structural variations using sequencing data. The methods are designed to detect shared variation using data from multiple individuals.Genome STRiP looks both across and within a set of sequenced...
Tags: Bioinformatics, Analysis, NGS, Genome STRiP, Genome, Variation
2783 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
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
2706 days ago
