ALISO VIEJO, CALIF., January 18, 2017—Ambry Genetics’ (Ambry) data sharing program, AmbryShare, is one of the largest germline exome data sets on hereditary breast and ovarian cancer available, with more than 1 million variants from 11,400 patients. This repository, originally announced in March of 2016 and previously only available to select researchers, is now publicly available for download.
Comprised of de-identified aggregated allele frequency data that includes analysis of all 20,000+ genes in the human genome, AmbryShare includes three key components: the library of genomic data, the scientific community, and the patients, who both contribute to and benefit from AmbryShare. All three elements interact as an ecosystem to bring clarity to relations between genetics and human disease.
“The ability to download data is key to the success of open-data sharing projects and puts the information directly into the hands of people that can make a difference. Researchers at all levels can mine this data with their own toolboxes aimed at unique efforts, such as evidence for a new breast cancer risk gene, accelerating precision drug design, or the application of new machine learning algorithms,” says Ambry’s Director of Emerging Medicine, Brigette Tippin Davis.
At its heart, AmbryShare is designed to remove or reduce barriers that have historically interfered with scientific research. From grant approvals to budgeting, data collection and more, AmbryShare makes it significantly easier for researchers and clinicians to complete their projects. In addition, research teams will be less reliant on third parties to secure funding, enabling them to research for the benefit of all, not just their commercial partners.
The democratization of genomic data hastened by AmbryShare gives any researcher who excels at sequence analysis the potential to find cures for diseases, with the help of more than 11,000 crowdsourced patient participants.
“The fact that we have had nearly every major pharmaceutical company and leading academic institution request access to AmbryShare illustrates the importance and value this data set has in progressing our understanding of hereditary breast and ovarian cancer,” says Ambry CEO Aaron Elliott, Ph.D.
The milestone fulfills Ambry’s greater goal of empowering researchers to understanding human disease. In addition, this program aims to fuel growing interest in precision medicine’s opportunities to create tailored patient treatment plans.
Ambry is currently soliciting collaborations with interested researchers for new AmbryShare exome projects aimed at autism and prostate cancer cohorts.
To register for access to AmbryShare, visit here.
ABOUT AMBRY GENETICS®
Ambry Genetics is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit www.ambrygen.com .
Corporate Communications Manager
949 457 4679