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Collaborations

ClinVar

ClinVar

Premier public database supported by National Center for Biotechnology Information; aggregates information about genomic information and its relationship to human health.

www.ncbi.nlm.nih.gov/clinvar

EGI

EGI

The Epilepsy Genetics Initiative (EGI) is a research program sponsored by the Citizens United for Research in Epilepsy (CURE). EGI is a database that contains genetic information about people with epilepsy that can be used for research purposes, with the goal of understanding genetic causes of epilepsy.

www.cureepilepsy.org

ENIGMA

ENIGMA

(Evidence-based Network for the Interpretation of Germline Mutant Alleles) - research-based consortium of investigators focused on determining the involvement of all variants of unknown significance in the BRCA1 and BRCA2 genes.

www.enigmaconsortium.org

PROMPT

PROMPT

Ambry participates in PROMPT (Prospective Registry of MultiPlex Testing), a multi-site collaborative study that aims to better understand the clinical significance of mutations and variants of unknown significance (VUS) in hereditary cancer genes.

www.promptstudy.info

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