Tags: genetics, epigenetics, variation
3670 days ago
Tags: VG, variation, graph, structures, interchange, formats, alignment, genotyping, variant, calling, methods, snp
1551 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
1509 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
367 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
27 days ago
Tags: Bioinformatics, Computational Biology, Variation, Structure, BreakSeq2
2979 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
2898 days ago
Tags: Bioinformatics, Analysis, NGS, Genome STRiP, Genome, Variation
2790 days ago
Tags: Bioinformatics, Analysis, NGS, Lumpy, SV, Variation, Structure, Genome
2802 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
2713 days ago