Maps & Geo
tooluniverse-variant-analysis
🌟8
VCF and variant analysis — parsing, annotation, classification (synonymous, missense, frameshift, stop_gained), VAF filtering, coding vs non-coding categorization, multi-condition variant comparison, variant-notation conversion (SPDI/HGVS/VCF/rsID interconversion, ALFA per-ancestry allele frequencies), European Variation Archive (EVA) lookups (per-study cohort variant data, RS-accession resolution), HGVS validation/normalization (Mutalyzer), gene-specific curated variants (LOVD), canonical cross-database allele IDs (ClinGen Allele Registry), automated ACMG/AMP classification (GeneBe), principal-transcript selection (APPRIS), Ensembl linkage disequilibrium (LD) for GWAS/fine-mapping, GRCh37/GRCh38 coordinate liftover and protein/cDNA-to-genomic mapping, and Ensembl ID utilities (stable-ID version history, cross-references, region/gene feature overlap, assembly/species metadata). Use for VCF parsing, variant fraction calculations (denominator = coding subset only, NOT all variants), per-sample mutation profiling, converting a variant between SPDI/HGVS/VCF-coordinate/dbSNP-rsID representations, cross-checking a variant against EVA's raw submitted study cohorts, validating an HGVS string's syntax, looking up curated variants for a well-studied gene, resolving a variant to its ClinGen CA ID, getting an automated ACMG verdict, or picking a gene's principal transcript.