Leverage comprehensive variant content

Genome Trax includes content from a wide range of public and proprietary databases including:

  • Variant databases including HGMD, PGMD, ClinVar, EVS, and dbNSFP
  • Regulatory feature databases including TRANSFAC, ENCODE, and Vista
  • Gene feature databases including PROTEOME, OMIM, and Orphanet

Genome Trax requires 1TB of free disk space per reference genome (hg18/hg19/hg38) for the uncompressed files.

 

 

Genome Trax

Genome Trax is a comprehensive compilation of variant knowledge that is made available for download for easy integration into your own or third party variant analysis pipelines for human whole genome, exome and targeted sequences. With Genome Trax content you can confidently identify known pathogenic variants or explore novel, as-yet-uncharacterized variants found within sequenced genomic samples.

Download sample data


Use with popular variant annotation tools

All Genome Trax content is made available in the form of .bed and .gff files, ensuring compatibility with many public domain genome browsers and annotation tools as well as ANNOVAR. A subset of the content made available in VCF format is compatible with the Biomedical Genomics Workbench including: HGMD mutations, HGMD imputed mutations, ClinVar mutations, GWAS catalogue mutations, EVS allele frequencies and dbNSFP functional predictions.

› Learn more about Biomedical Genomics Workbench

 


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