Claritas Genomics to Present Six Data Abstracts Demonstrating an Innovative Approach to Clinical Diagnosis at ASHG Annual Meeting

BOSTON, Oct. 7, 2015 /PRNewswire-USNewswire/ -- Claritas Genomics, Inc., will have six presentations at the American Society of Human Genetics (ASHG) running 10/6 – 10/10 in Baltimore, MD.  Claritas colleagues and collaborators from Boston Children's Hospital and The Congenital Muscle Disease International Registry (CMDIR) will present data on the company's innovative approach to deliver fast, rapidly confirmed, and phenotypically focused testing, demonstrating the benefits for patients, healthcare providers, and hospital systems.

"So many rare childhood disorders are diagnosable today, but most children with a diagnosable disorder are not being diagnosed because the tools, information and specialized expertise doctors need are difficult to find," said Patrice Milos, PhD, Claritas Genomics president and CEO. "The data we will present at ASHG show how Claritas is making these resources better, and more easily available, providing answers more quickly and more cost effectively, to guide clinical care and improve patient outcomes."

"Our experience with the Claritas testing solution has already profoundly changed the lives of patients, families, and how we are thinking about integrating genetics into the congenital muscle disease community," said Anne Rutkowski MD, director of the Congenital Muscle Disease International Registry (CMDIR).

Visit the Claritas Genomics booth #305 in the Exhibit Hall to learn more about the Claritas Clinical Exome, Pediatric Neurological Region of Interest approaches, and our ability to deliver clinical test results in 3-4 weeks.

ASHG– Claritas Genomics Presentation Schedule

Program Number 2070
Title: Next-Generation Sequencing test within a neurologic region of interest leads to diagnosis of RYR1-related disorder for 36-year-old female after three decades
Presenters:   Pam Gerrol, M.S., CGC, Claritas Genomics and Ann Rutkowski, CMDIR
Location: Convention Center, Exhibit Hall, Level 1
Time/Date: Friday, 11:45 AM – 12:45 PM

Program Number 2071
Title: Clinical results from a pediatric neurological region of interest using an orthogonal NGS approach to identifying variants
Presenter:  Eric White, Ph.D., Director, Research and Development, Claritas Genomics
Location: Convention Center, Exhibit Hall, Level 1
Time/Date: Wednesday, 5 PM – 6 PM 

Program Number 2085
Title: UPD1 in a Newborn with Multiple Congenital Anomalies
Presenters:  Ann Seman, M.S., CGC; Claritas Genomics, L. Rodan and A. C. Woerner, Boston Childrens Hospital
Location: Convention Center, Exhibit Hall, Level 1
Time/Date: Friday, 10:45 AM – 11:45 AM 

Program Number 1981
Title: Improved Sensitivity and Rapid Confirmation of Variants via Orthogonal Sequencing of Exomes
Presenter: John Thompson, Ph.D. Chief Technology Officer, Claritas Genomics
Location: Convention Center, Exhibit Hall, Level 1
Time/Date: Wednesday, 5 PM – 6 PM

Program Number 1933
Title: Strategies for calculating variant confidence by combining sequencing results
Presenter: Niru Chennagiri, M.S., Bioinformatics Scientist
Location: Convention Center, Exhibit Hall, Level 1
Time/Date: Wednesday, 5 PM – 6 PM

Program Number 1619
Title: Improving Specificity in Ion Proton Data
Presenter:  Daniel Lieber, Ph.D. Assoc Dir., Claritas Genomics
Location: Convention Center, Exhibit Hall, Level 1
Time/Date: Thursday, 11 AM – 12 PM 

WuXi-NextCODE Event:  Big Genomics in Practice: Diagnostics & Discovery
Tim Yu, MD, PhD; of Boston Children's Hospital, Co-Founder and Principal Consultant Claritas Genomics will present:
'A Holistic Approach to Pediatric Rare Disease: Seamless Integrations of NGS Data for Diagnostics, Research, Therapy & Care'
Location: Sheraton Inner Harbor Hotel, Chesapeake Ballroom I, 3rd Floor
Time/Date: Thursday, 1 PM -- 2:30 PM

About Claritas Genomics
Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families' long search for answers. By combining clinical expertise of the world's best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. For more information about Claritas Genomics, visit www.claritasgenomics.com.

Contact: Betsy Stevenson, Director of Corporate Communications
[email protected]
Tel: (860) 984-1424

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SOURCE Claritas Genomics

Related Links

http://www.claritasgenomics.com

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