Annotate genetic variants with regulatory data

Annotate genomic variants with functional predictions

Clinical variant interpretation when you need comprehensive functional predictions and disease association.

• · VCF file with variants
• · Annotation databases (VEP, ANNOVAR, snpEff)
• · Prediction models (CADD, SIFT, PolyPhen)

• · Annotated VCF with effect predictions
• · Functional impact scores
• · Clinvar/OMIM cross-references

• · VEP/ANNOVAR/snpEff
• · External DBs (gnomAD, ClinVar)
• · Prediction APIs

Valid VCF input, reference genome fasta, annotation DB indices built

Invalid VCF format, reference mismatch, missing DB files, API rate limit exceeded, stale prediction models

• · Multi-database integration
• · Prediction score standardization
• · ClinVar cross-reference
• · Population frequency context (gnomAD)