PierianDx, the leading genomics technology company that enables precision medicine, announced today at the annual meeting of the American College of Medical Genetics and Genomics (ACMG) a series of enhanced germline testing features for the company’s enterprise informatics software platform.
The Clinical Genomics WorkSpace (CGW) provides a single, integrated platform for clinical labs to create more streamlined and accurate analysis, interpretation, and reporting for both somatic and germline testing. CGW germline testing features include phenotype-based prioritization of variants and rapid classification of variants following ACMG guidelines.
Phenotype-based prioritization is made possible in CGW with Phenolyzer™, a powerful tool that takes input phenotype terms and calculates a weighted, gene-level score and annotates each variant with its associated score.
“Clinical labs are moving away from fragmented technology approaches toward unified solutions like CGW to accelerate their NGS testing,” said PierianDx CEO Rakesh Nagarajan, M.D., Ph.D. “We have led the market with the vision of a single workspace for clinical labs across the entire workflow, supporting both somatic and germline panels.”
PierianDx’s support for germline testing also includes clinical microarray, commonly used in the germline setting to evaluate complex development disorders. PierianDx complements its germline technology with a range of support services. The company’s interpretation services involve clinical and scientific teams leveraging CGW’s patented knowledgebase to provide highly scalable and reliable clinical interpretations for inherited diseases. Interpretations by PierianDx variant scientists and medical directors are combined with machine learning within the knowledgebase comprised of millions of biomedical finding to produce the most clinically actionable insight available for customers.
PierianDx’s germline testing features are being showcased in Booth 1203 at ACMG.