Golden Helix’s SNP and Variation Suite (SVS) software empowers research organizations as well as pharmaceutical companies to perform the complex statistical analyses involved in genome-wide association studies and rare variant analysis in order to uncover the associations between diseases and underlying genetic markers. SVS allows this complex process to be executed simply and easily, by the researchers themselves, without requiring the support of a bioinformatics specialist drastically cutting the OPEX.
For hospitals and testing labs, where the impact of Precision Medicine is more direct. Golden Helix offers a clinical suite of products, which helps to speed up the process of analyzing large data-sets. This in turn allows clinicians to diagnose patients more effectively and to quickly select the most appropriate treatment options, based on genetic makeup. “VarSeq is proving to be a highly valued tool in the clinical testing market," said Andreas Scherer, President and CEO of Golden Helix. “VarSeq has helped testing labs like Prevention Genetics achieve their goal of offering exome testing by helping them to speed up the analysis of exome sequencing data.”
Precision medicine will fundamentally change how health care is practiced
At the suite’s core, is VarSeq which begins by providing a filtering and annotation engine to sift through large variant data sets, zeroing in on those that are most likely to be connected with the observed phenotype. After VarSeq provides the variants of interest; VarSeq Reports can be used to generate a fully customizable, clinical-grade report based on ACMG guidelines. In a high-throughput environment, the clinical pipeline can be automated by implementing VarSeq Pipeline. VarSeq Pipeline allows for the creation of workflow-encoded project templates in VarSeq, locking down quality control and filtering parameters, automating the entire pipeline and providing the lab with the requirements needed for a CLIA and CAP certified analysis. VarSeq projects produced by the automated pipeline can be used by lab staff to complete the variant interpretation and reporting using the easy-to-use graphical interface.
“Precision Medicine will fundamentally change how health care is practiced,” reflected Scherer. “We look forward to serving the evolving needs in this market.” In 2016 Golden Helix plans to launch its newest software solution, VSWarehouse. “VSWarehouse will provide the ability to store annotated variant data along with clinical reports, providing an annotation source for future clinical assessments as well as the basis for cohort studies,” commented Scherer. “This is a key capability for pharma companies which are generating vast amounts of data in this space.” The company’s new warehouse solution will also serve as an integration point to other IT systems in laboratories and hospitals.