Genome Trax™ is a comprehensive compilation of variant knowledge that is made available for download for easy integration into your own custom variant analysis pipeline 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 your sequence samples that are predicted to have a deleterious effect by virtue of a change in amino acid, disruption of a regulatory motif, or the disease-, drug-, or pathway-association of the affected gene.
The database includes the world’s most comprehensive collection of inherited disease causing mutations from HGMD® Professional and pharmacogenomic 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 content has been optimized to work seamlessly with ANNOVAR™, an easy to use command line perl program for variant annotation that can be used by bioinformaticians to quickly set up and configure a pipeline for variant annotation. ANNOVAR™ is free for academic use and can be licensed for commercial use.