Presentations Focus on Pediatric Neurology Exome Testing and a Novel Rapid Sequencing ApproachCAMBRIDGE, Mass., March 24, 2015 — (PRNewswire) — Claritas Genomics will present data on the quality of parallel multi-technology sequencing, a comparison of the company's phenotypically driven Pediatric Neurology Exome Assay to whole exome and panel-based approaches, three-part reports for rapid results reporting, and the clinical utility of the Neurology Exome's tailored approach compared to other tests currently on the market.
"Gene testing is transitioning from a pick and choose artisanal approach for test selection, gene selection, variant analysis and reporting, to standardized and scalable approaches, like those we will present at ACMG," says Patrice Milos, PhD, Claritas Genomics president and CEO. "Come see us at booth 935 in the Exhibit Hall to learn more about our Pediatric Neurological Exome Assay and our ability to deliver validated, standardized test results in 2-3 weeks."
Anticipating the growth of genome-based medicine in pediatrics, Claritas' focus is to develop innovative approaches to gene testing. Claritas' ability to rapidly measure and analyze vast data sets will enable researchers to characterize hundreds of rare genetic variants that will ultimately lead to more accurate clinical diagnoses of pediatric disorders.
Claritas Wins Contract from US Department of Veterans Affairs (VA) Million Veteran Program (MVP) Exome Sequencing Initiative
Based on the operational quality, scale, and rapid turnaround of the Claritas Genomics platform the Department of Veterans Affairs has awarded a contract to expand the Million Veteran Program which is sequencing tens of thousands of exomes. The Million Veteran Program is a voluntary initiative that, once complete, will establish one of the largest databases of genetic, lifestyle and health information in the world.
"Claritas' ability to perform and interpret exomes rapidly and accurately is second to none in the US," says David Margulies, MD, executive director, the Gene Partnership of Boston Children's Hospital. "The combination of the AmpliSeq prep, Proton instrumentation, and Claritas' automated processing and analytic pipeline produce exomes more rapidly, accurately, and inexpensively than any facility in the US."
ACMG 2015 – Claritas Genomics Presentation Schedule
Scheduled Theater Presentation
Thursday, March 26, at 11:05 am
Phenotype First: The Power of a Tailored Exome
Yiping Shen, PhD, Medical Director, Claritas Genomics
Thursday, March 26 from 10:30 am – 12:00 pm:
Poster 647 - Title:
Faster and Focused: Advantages of a Phenotype-Focused Region of Interest over Whole Exome Sequencing
Julie Rousseau, MS, CGC; Director, Clinical Science Services, Claritas Genomics
Poster 555 - Title:
Evaluating a new approach to genetic testing for complex neurological phenotypes
Natalie Vena; Genetic Counselor, Claritas Genomics
Poster 517 - Title:
A three-part approach to reporting complex genetic test results: a pilot study designed to evaluate provider preferences
Ann Seman; Genetic Counselor, Claritas Genomics
Friday, March 27, from 10:30 am – 12:00 pm:
Poster 340 - Title:
Rapid Confirmation and Reporting of Variants in Whole Exome Sequencing
John F. Thompson, PhD; Chief Technology Officer, Claritas Genomics
About the Claritas Pediatric Neurology Exome Assay
The Claritas Pediatric Neurology Exome Assay is the first in a family of high content, Next-Generation Sequencing (NGS) assays launched by Claritas Genomics. The Claritas Exome assays combine the flexibility and comprehensiveness of whole exome sequencing with the rigor of deep and focused analysis of variants associated with specific clinical presentations. Patients who will benefit from the new assay are children with neurological symptoms suspected of having a genetic basis, for which traditional or small panel testing is insufficient.
About Claritas Genomics
Claritas Genomics is a clinical genetic diagnostic testing company that combines the clinical expertise of the world's best pediatric specialists with next generation sequencing technology to inform and improve patient care. Claritas offers a full range of services that take the guesswork out of selecting molecular tests and support clinicians as they navigate the increasingly complex landscape of genetic diagnostics. Claritas' interpretive services are based on the most up to date and reliable findings and Claritas' reports are designed to clearly communicate complex genetic information to guide medical treatment.
Tel: (860) 984-1424
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SOURCE Claritas Genomics