Genome Trax™ is a comprehensive compilation of variant knowledge that allows you to quickly and confidently identify pathogenic variants in human whole genome or exome sequences.
If you are analyzing whole genome or exome sequencing data — Genome Trax™ is the tool to use. Genome Trax™ makes it easy to upload a complete genome’s worth of variations and, within an hour, identify the biologically relevant subset of known mutations, mutations that are novel and appear in a candidate disease genes, or mutations that are predicted to have a deleterious effect. The database includes the world’s most comprehensive collection of disease causing mutations from HGMD® Professional and pharmacogenomics variants from PGMD™, as well as regulatory sites from TRANSFAC® , and disease genes, drug targets and pathways from PROTEOME™. It integrates the best public data-sets on somatic mutations, allele frequencies and clinical variants, in their most up-to-date version, for a total of more than 165 million annotations.
Genome Trax™ provides a simple, easy-to-use online interface for biologists, geneticists and pathologists to find relevant variants within minutes, with no need for bioinformatics expertise. You can identify known pathogenic variants, remove harmless common variants, and obtain deleterious predictions for novel variants. If you have family data, you can identify variants that are de novo, compound heterozygous only in the offspring. All of the results can be downloaded to Excel for further review. For core facilities and bioinformaticians, the complete underlying data is made available for download and easy integration into custom analysis pipelines. Genome Trax™ data is already optimized to work with many other software packages, such as ANNOVARTM, CLC bio, Alamut, SimulConsult, and Cartagenia and is used by a large number of NGS service providers, researchers, pathologists and diagnostic labs.