BIOBASE GmbH announced today that it has been selected by Cypher Genomics to aid in whole genome interpretation. Researchers at Cypher Genomics will incorporate the knowledgebase in Genome TraxTM to assist in their interpretation of next generation sequencing variants to provide rich genomic knowledge from sequencing data.
Cypher Genomics provides comprehensive automated software solutions for medical geneticists, computational biologists, clinicians, and researchers looking to extract maximal value from whole genome sequencing. Genome TraxTM enables the ability to interpret next generation-sequencing (NGS) data and convert the genomic data to actionable genomic knowledge.
Genome TraxTM prioritizes human genome variants in whole genome or exome data that merit further investigation. The tool maps NGS data to known features such as HGMD® disease mutations and TRANSFAC® regulatory sites. In addition, Genome TraxTM identifies novel mutations that are likely to affect the function of candidate disease genes, and enables users to filter out the millions of irrelevant variants.
“Genome TraxTM provides the most comprehensive database of human disease associations and is an invaluable resource in both clinical and research-grade genetics and genomics activities,” explains Dr. Ali Torkamani, Chief Science Officer, at Cypher Genomics.
“Cypher Genomics will interpret genomes with cutting-edge precision and enable the use of genomics in diagnosis, discovery, and treatment. Genome TraxTM frees them to focus on their deep expertise in computer science, quantitative genetics, and medicine, to deliver state-of-the-art genome processing to their customers,” stated Frank Schacherer, CTO, BIOBASE.