The world would be a better place if all human disease was understood. We hope the scientific community finds utility in the AmbryShare database and dataset to better understand disease on their own and/or in collaboration with Ambry. We encourage the following groups to use this database:
The AmbryShare database: This includes anonymized aggregate allele frequency data derived from exome sequencing of 10,000+ patients with disease. Here is an example of how the aggregate data would look for a particular variant (click image to enlarge): The Data: Request to download the aggregated cohort data (VCF File). Again, no individual sequence data or detailed clinical information is included in this dataset.
Samples were selected from patient samples received at Ambry Genetics for clinical genetic testing, focused on breast and ovarian cancer. All patients consented to the use of their sample for research.
Based on strict adherence to our research protocol, which was IRB-approved as exempt, only the type of disease the patient had will be provided (e.g. breast cancer).