6 projects
scout-browser
Clinical DNA variant visualizer and browser
vcf2cytosure
Convert VCF with structural variations to CytoSure format
stranger
Annotate VCF files with STR variants with pathogenicity implications
paraphrase
Parse paraphase JSONs
strdrop
Detect coverage drops in LRS STR expansion calls
query-phenomizer
Tool for query and parsing the phenomizer tool