BIOBASE’s Genome Trax™ offering has been specifically developed to map individual variations in DNA sequence to functionally characterized nucleotide signatures described within the scientific literature. In addition to integrating public domain data sources such as the Catalogue of Somatic Mutations in Cancer (COSMIC) and significant findings from NHGRI’s catalog of genome-wide association studies (GWAS Catalog), Genome Trax integrates content from the Human Gene Mutation Database (HGMD®), a resource available for inherited disease-associated mutations.
Using HGMD, Genome Trax users can map their full set of identified variants to those specific sequence changes that have been experimentally demonstrated to result in a phenotypic effect without applying any filtering steps (Figure 2).
For those users who are interested in identifying novel sequence changes that are likely to result in a phenotypic effect of interest, Genome Trax provides an alternate workflow which allows users to instead filter out the HGMD-characterized disease-causing mutations to isolate novel frameshift and nonsynonymous mutations that are present within genes associated with a disease of interest—as determined by HGMD and PROTEOME™ disease gene assignments (Figure 2).
Additional data tracks provide further context such as pathway membership, drug target interaction, and sites of gene regulation.
The online interface makes it easy for bench scientists and genetic counselors to identify, within a matter of minutes, those subsets of characterized pathogenic mutations and candidate novel mutations represented in a dataset of sequenced variants. But for computational biologists developing their own custom variant analysis pipelines, a purely online solution can be too restrictive. In order to facilitate integration with other data sources and customized tools, Genome Trax data is made optionally available for download—providing ultimate freedom from one-size-fits-all solutions.