reference-files

Small reference files

This repository is for storing small custom reference files created locally.

rare-disease

annotation

VCFanno config, lua and specifically converted files (malformated CADD).

disease_loci

Definition files for callers, currently extensions to ExpansionHunter, mirrored and archived from our Stranger resource variant catalogs.

frequency

Frequency type small references. Currently GenBank haplogroups.

gene_panel

Manual edits and archive exports to gene panel realated files, bed and tsv.

rank_model

Genmod model files, divided into SV and SNV/indel type of variants. See Genmod documentation.

region

Region type small reference files, mostly BED. vcf2cytosure difficult region exclusion files, cytoband definitions, repeat element locations, manta call regions.

cancer

Somalier

Somalier sites files mirrored from v0.2.16