Ambry Genetics’ Big Data Sharing Program Now Available for Public Download
lterrat's bookmarks 2017-01-19
"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.
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."