Tags: genetics, epigenetics, variation
3663 days ago
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
Tags: Bioinformatics, Computational Biology, Variation, Structure, BreakSeq2
2972 days ago