License the genomic knowledge bases your clinical reports cite. Premium add-ons bring Golden Helix CancerKB, OMIM, LOVD, CADD, Mastermind, and CI-SpliceAI into the VarSeq Suite for variant filtering, classification, and reporting.
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 licenses and integrates these premium sources so your reports cite current, expert-curated evidence.
All databases are cleaned, standardized, and integrated for immediate use within VarSeq.
Monthly dataset refreshes keep ClinVar, gnomAD, OMIM, and other sources current.
All annotation data stays on your infrastructure, supporting reproducibility and compliance audits.
Golden Helix CancerKB is curated in-house by PhD scientists with cancer genomics and clinical backgrounds, drawing on primary literature, NCCN and WHO guidelines, and trial databases. It provides diagnostic, prognostic, and therapeutic interpretations, with deep coverage of somatic variants in 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.
Direct licensing and integration for the databases clinical labs cite most: OMIM, LOVD, CADD, Mastermind, and Golden Helix CancerKB.
The Leiden Open Variation Database is a federated network of expert-curated Locus-Specific Databases (LSDBs), with variant classifications, phenotypes, and functional evidence often missing from larger repositories.
Online Mendelian Inheritance in Man provides curated summaries of gene-phenotype relationships and Mendelian disorders.
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.
Golden Helix maintains a catalog of 200+ public and premium datasets, vetted, cleaned, and optimized for the VarSeq annotation engine.
Showing selected annotations from our catalog of 200+ sources
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.
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.
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.
Learn how premium annotations enhance clinical variant interpretation and reporting workflows.
Talk to our team about integrating premium clinical databases into your workflow.