Specialized Tools: Premium Annotations

Premium Annotations — Licensed Clinical & Research Databases

Access the world's most trusted genomic knowledge bases directly within the VarSeq Suite. Our premium annotation add-ons integrate expertly curated data from Golden Helix CancerKB, OMIM, LOVD, CADD, and others into a unified analysis environment.

The Foundation of Clinical Interpretation

High-quality genomic analysis is only as strong as the data that powers it. While public databases provide an essential starting point, clinical-grade workflows often require the depth and precision of expert-curated, licensed databases. Golden Helix provides a seamless way to incorporate these premium sources into your analysis, ensuring that your reports are backed by the most current and comprehensive evidence available.

Vetted & Curated

All databases are cleaned, standardized, and integrated for immediate use within VarSeq.

Monthly Updates

Stay current with evolving genomic knowledge through our automated monthly dataset updates.

Local Storage

Ensures reproducibility and compliance by storing all annotation data locally on your infrastructure.

Expert Curated Content

Golden Helix CancerKB™

Our flagship expert-curated database, Golden Helix CancerKB, provides diagnostic, prognostic, and therapeutic interpretations based on the latest NCCN and WHO guidelines. Specifically designed for oncology workflows, it offers a comprehensive overhaul of somatic variant interpretations, including hematological cancers.

  • Overhaul of diagnostic and prognostic interpretations for hematological cancers.

  • Integration of the latest NCCN and WHO guideline updates.

  • Automated identification and classification of somatic mutations in VSClinical.

See CancerKB in VSClinical
Oncology Interpretation
Hematological Cancer Panel
NCCN Guideline Check
Automatic
WHO Prognostic Score
Automatic
Therapeutic Relevance
Automatic

Leading Clinical Partners

We partner with industry leaders to provide direct licensing and integration for the databases that define modern clinical genetics.

LOVD Add-on

The Leiden Open Variation Database is a federated network of expert-curated Locus-Specific Databases (LSDBs), providing deep clinical and functional insights often missing from larger repositories.

  • 400,000+ unique variants & 10,000+ CNVs
  • Classifications, phenotypes & inheritance patterns
  • Functional evidence & literature citations

OMIM® Add-on

Online Mendelian Inheritance in Man provides comprehensive, curated summaries of gene-phenotype relationships and genetic disorders.

  • Phenotype-driven gene prioritization
  • Curated clinical synopses
  • Essential for HPO-based analysis

CADD Add-on

Combined Annotation Dependent Depletion (CADD) is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletion variants in the human genome.

  • Integrates diverse annotations into a single score
  • Prioritize functional non-coding variants
  • Vetted and optimized for VarSeq engine

The Comprehensive Annotation Ecosystem

Golden Helix maintains an extensive catalog of public and premium datasets, all vetted, cleaned, and optimized for the Golden Helix high-performance annotation engine.

DatabaseCategoryAccessDescription
Golden Helix CancerKBOncologyPremiumExpert-curated diagnostic/prognostic somatic evidence.
Mastermind Curated VariantsGermlinePremiumManually curated ACMG classifications for 200,000+ variants.
Mastermind CKBOncologyPremiumCancer Knowledgebase with therapy-matched somatic variant evidence.
OMIMPhenotypesPremiumOnline Mendelian Inheritance in Man gene/phenotype data.
CADDPredictionPremiumCombined Annotation Dependent Depletion variant scores.
CI-SpliceAISplicingPremiumDeep learning-based splice effect predictions.
DrugBankTherapiesPremiumComprehensive database of drugs, targets, and actions.
LOVDClinicalPremiumLeiden Open Variation Database curation.
PGX (CPIC/FDA)PGxPremiumPharmacogenomics insights from CPIC and FDA.
NCI-TrialsTrialsPremiumNational Cancer Institute clinical trial database.
ClinVarClinicalVettedNCBI archive of variant-phenotype relationships.
gnomADPopulationVettedGenome Aggregation Database allele frequencies.
AlphaMissensePredictionVettedDeepMind genetic variant effect predictions.
ClinGenClinicalVettedClinical Genome Resource annotations.
CIViCOncologyVettedClinical Interpretation of Variants in Cancer.
RefSeq/EnsemblGenomicVettedComprehensive gene and transcript models.
1000 GenomesPopulationVettedCommon variant allele frequencies.

Showing selected annotations from our catalog of 200+ sources

Frequently Asked Questions

How are premium annotations licensed?

Premium annotations like OMIM, Mastermind Curated Variants, and CancerKB are licensed as annual add-ons to your VarSeq subscription. Golden Helix handles the technical integration, data cleaning, and updates, providing you with a single point of contact for both the analysis software and the curated data sources.

How often are the databases updated?

Golden Helix provides monthly updates for all curated datasets. This ensures that you have access to the latest versions of public databases (like ClinVar and gnomAD) and the most recent releases of professional sources like OMIM and Mastermind, all vetted and standardized for our platform.

Can I use these annotations without an internet connection?

Yes. All annotation data is stored locally on your analysis workstation or server. This is a core requirement for many clinical labs to ensure reproducibility, data privacy, and performance independent of external service availability or cloud dependencies.

Annotation Insights & Webcasts

Learn how premium annotations enhance clinical variant interpretation and reporting workflows.

On-Demand Webcasts

View All VarSeq Webcasts

Ready to Enhance Your Analysis?

Talk to our team about integrating premium clinical databases into your workflow.

Licensed Premium Databases
Monthly Updates
Seamless VarSeq Integration