ST LOUIS, MO – PierianDx, the forerunner in clinical genomic informatics, announced today that it has released a new version of its leading bioinformatics software platform that will address exome sequencing workflow.
“We have always had a platform that was built by genomicists, for genomicists,” said Ted Briscoe, CEO of PierianDx. “True to our roots, we designed our new exome release with guidance from the best and brightest minds in the industry.”
The PierianDx Clinical Genomicist Workstation (CGW) version 3.0 provides comprehensive clinical insights for somatic cancer as well as constitutional assays. CGW 3.0 will expedite the time for medical review and sign-off for rare constitutional disorders because it:
- offers a highly streamlined workflow vetted by the PierianDx medical advisors
- leverages an extensive, curated, up-to-the-moment knowledgebase constantly integrating databases across the constitutional space
- is shaped by the American College of Medical Genetics and Genomics’ (ACMG) most up-to-date guidance of variant classification
- utilizes a complex algorithm that results in a PDx score highlighting the most relevant, actionable information
“By reaching out to clinicians like us, PierianDx has gained a clear understanding of what the medical community needs,” said Karl V. Voelkerding, MD, Medical Director for Genomics and Bioinformatics at ARUP Laboratories and Professor of Pathology at the University of Utah School of Medicine. . “With the CGW 3.0, clinicians will more rapidly be able to identify the most relevant variants for each patient. As a result, we’ll be able to provide faster, more precise diagnosis and counsel to families whose children have a variety of genetic-based medical disorders.”
Other leading medical directors advising PierianDx on the exome workflow and knowledgebase includes:
- Catherine E. Cottrell, Ph.D., Medical Director of Genomics and Pathology Services at Washington University in St. Louis
- Jonathan W. Heusel, M.D., Ph.D., Chief Medical Officer, Genomic Pathology Services and Associate Professor of Pathology & Immunology at Washington University School of Medicine in St. Louis
- Mani S. Mahadevan, M.D., Chief of the Division of Clinical Genomics and Molecular Diagnostics Lab Medical Director for the University of Virginia
- Ramaswamy Iyer, Ph.D. FACMG, Director Clinical Molecular Genetics and Biobanking, Inova Translational Medicine Institute
PierianDx enables clinical labs to deliver patient-specific diagnosis and treatments based on an individual’s DNA. In use since 2011, and regularly enhanced with new patient, clinical and research data, PierianDx’s proprietary Clinical Genomicist Workstation software provides clinical labs everything they need to manage their next-generation sequencing processes. For more information, please visit www.pieriandx.com or @PierianDx on Twitter.