Golden Helix Announces the Introduction of Phenotype Gene Ranking in VarSeq Software
Bozeman, MT (March 10, 2015) — Today, Golden Helix Inc. announced the addition of phenotype gene ranking in VarSeq version 1.1.1, released yesterday. The gene ranking application in VarSeq is called PhoRank, a phenotype driven variant ontological re-ranking tool.
PhoRank is modeled on the Phevor algorithm, published by Mark Yandell's group in 2014. It works by leveraging the knowledge resident in diverse biomedical ontologies, such as the Human Phenotype Ontology, and the Gene Ontology, which contain the critical links between gene and disease associations.
The result in VarSeq is a gene score which can be ranked and filtered in order to narrow the search space, while prioritizing the resulting variants by their gene's relevance to an individual's phenotypes.
"Phenotype gene ranking is of critical importance for clinicians to zero in on clinically relevant variants", said Andreas Scherer, President and CEO of Golden Helix. "With the launch of VarSeq 1.1.1, we make a big step in supporting our clinical customers."
VarSeq software streamlines the process of annotating and filtering variants obtained from NGS pipelines, allowing both research scientists and clinicians to find variants of interest in a very efficient and straightforward manner. VarSeq simplifies the user interface and provides a scalable architecture featuring repeatable workflows, note taking, reporting, and filter parameter prototyping.
About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and translational medicine for over 16 years. Our innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from micro-arrays and DNA sequencing. With our solutions, hundreds of the world's top pharmaceutical, biotech, and academic research organizations are able to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine. Golden Helix products and services have been cited in over 800 peer-reviewed publications.