HOW CAN YOU GET INVOLVED?

Register with AmbryShare to securely enter a patient’s family history details
and freely access our data. Get more details here.

Register Now

WHY GET INVOLVED?

It’s time to restore the balance between open science and commercial interests. With AmbryShare, we can break the mold to unlock the promise of the human genome.

It’s time to restore the balance between open science and commercial interests. With AmbryShare, we can break the mold to unlock the promise of the human genome.

Register with AmbryShare to gain access to the aggregated and de-identified exome sequencing data from this cohort. You will be able to freely access the database to search for alterations, review allele frequencies, view protein folding domains, and access links to other publicly available disease and variant-specific databases. The AmbryShare database can be leveraged alongside other public databases to assist in the interpretation of genetic results.

You can also request to download a copy of this aggregated cohort data, all for free. We hope this data will be useful to continue to search for candidate genes for new gene-disease relationships, variants for functional analysis or drug targets, and other important research goals.

We will also send updates on AmbryShare and any new disease cohort/aggregate data as they are available.

Register with AmbryShare to gain access to aggregated data from one of the largest exome sequencing disease cohorts.
Complete a Data Request Form, to request to download the data for free.
Explore our AmbryShare database and stay tuned for updates.

STEPS TO GET INVOLVED

Want to get involved? Here are the steps to make it happen:

Explore The AmbryShare Database

  • Explore the AmbryShare database to review cohort data (search by gene/variant, cohort allele frequency, protein folding domains, links to public databases, and more)
  • Request to download a copy of the aggregated data for free

Frequently Asked Questions

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:

  • Researchers and scientists: mine AmbryShare looking for candidate genes for new gene-disease relationships, variants for functional analysis or drug targets, and other important research goals.
  • Worldwide clinical and research laboratories performing variant assessment: leverage the AmbryShare database alongside other databases, to assess variants and assist in interpretation of results in AmbryShare, with the goal of understanding human disease.
  • Patients: to register with AmbryShare to receive updates, gain access to our family history tool, and take it to your healthcare provider to discuss if genetic counseling and/or testing is right for you.

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).

Yes, you may request a copy of the aggregate data. Once you register and complete our Data Request Form, you will be provided with access to download.

Let people know

Tell your colleagues you have registered with AmbryShare,
and ask them to register as well!

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