Gvanno Versions Save

• Updated databundle
• New script to download bundle (VEP + gvanno custom cache)
• Added oncogenicity annotation

Added option —vep_coding_only

VEP 107 ClinVar September 2022 GWAS catalog August 2022 GENCODE 41/19 CancerMine v47

• Data updates (ClinVar, CancerMine, GENCODE, GWAS catalog, Open Targets Platform, PFAM, UniProt KB)
• VEP update (v105, GENCODE v39 (grch38))

• Updates of ClinVar, GWAS catalog, UniProt, Open Targets Platform, CancerMine

• Addition of regulatory annotations (VEP, ncER algorithm)
• Software/data updates: VEP 104, ClinVar May 2021, UniProt (April 2021), GWAS catalog (May 2021), Pfam (March 2021), dbNSFP (March 2021), Open Targets Platform (February 2021)
• Singularity setup for v3.0 only

• Data updates (ClinVar, Open Targets Platform, UniProt, GWAS Catalog)
• VEP update (102) - GENCODE update (36 for GRCh38)
• DisGenet annotations skipped

• September 2020 data updates
• Removal of TOML file for configurations - now provided as arguments to main Python script
• VEP 101

• Multiple updates to underlying variant/gene annotation sources (ClinVar, dbNSFP, Pfam, GWAS catalog, Open Targets Platform, DisGenet)
• Addition of VEP plugin NearestExonJB to retrieve relative position of variants in exon/introns