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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

Dana Farber Cancer Institute

Over the past few years, Ambry has collaborated with clinical genetics experts from DFCI to explore genotype-phenotype associations with mutations in hereditary cancer susceptibility genes.

www.dana-farber.org/About-Us.aspx

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

Matchmaker Exchange

Ambry participates in the Matchmaker Exchange through GeneMatcher to facilitate novel disease-gene discovery through connecting health care providers with other external clinicians and researchers. This process has led to over 100 collaborations and over 40 publications.

https://www.matchmakerexchange.org/

Mayo Clinic

Ambry and Mayo Clinic have a rich history of 5+ years of collaboration on many projects related to variant assessment, functional analyses and polygenic risk scores.

View our Interactive Prevalence Tool developed in partnership between Mayo Clinic and Ambry Genetics.

www.mayoclinic.org/departments-centers/clinical-genomics/overview

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