Small reference files
This repository is for storing small custom reference files created locally.
VCFanno config, lua and specifically converted files (malformated CADD).
Definition files for callers, currently extensions to ExpansionHunter, mirrored and archived from our Stranger resource variant catalogs.
Frequency type small references. Currently GenBank haplogroups.
Manual edits and archive exports to gene panel realated files, bed and tsv.
Genmod model files, divided into SV and SNV/indel type of variants. See Genmod documentation.
Region type small reference files, mostly BED. vcf2cytosure difficult region exclusion files, cytoband definitions, repeat element locations, manta call regions.
Somalier sites files mirrored from v0.2.16