MENLO PARK, Calif.--(BUSINESS WIRE)--Personalis, Inc., a leading genomics-based clinical diagnostic laboratory, announced today that the company will be present results demonstrating the application of new technologies to enhance the diagnostic yield of clinical exome testing at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, March 24-28, 2015 in Salt Lake City, Utah.
Through multiple venues, including invited oral and poster presentations as well as a company-sponsored workshop, scientists and clinicians from Personalis will showcase how a multidisciplinary approach to improving diagnostic yield has proven successful in solving the most challenging Mendelian disorder cases. Covering the use of improved informatics, mosaic variant identification strategies, sequence-based structural variant detection, and a content and coverage enhanced exome platform, the talks and posters will demonstrate why a multifaceted approach is critical to achieving a high diagnostic yield.
John West, President and CEO of Personalis said, “Our team has been working hard to advance every aspect of the technologies required to provide diagnoses for genetic disease. The breadth of presentations at ACMG demonstrates both the complexities of solving the most difficult cases, as well as how an investment in improving technologies can provide meaningful answers for patients and their families.”
A detailed listing of Personalis presentations at the ACMG meeting can
be found at:
Information about the ACE Clinical Exome Test can be found at:
About Personalis, Inc.
Personalis, Inc. provides researchers and clinicians advanced genome-scale sequencing and interpretation services for inherited genetic disease and cancer. The company’s clinical laboratory is CLIA licensed and CAP accredited. For more information please visit www.personalis.com.