Blueprint Genetics

New Face2Gene case report to help phenotype patients

Mar 27, 2017

FDNA provides a HIPAA-compliant Face2Gene deep learning technology that de-identifies and analyzes cases to identify new phenotypes, facial characteristics and genes that are associated with rare diseases.

The new Face2Gene case report enables a clinician to share their patient’s case phenotype with Blueprint Genetics to help improve variant filtering and prioritization. Having access to a structured patient phenotype that includes Face2Gene’s facial gestalt analysis can improve diagnostic yield by as much as 100%. Clinicians are invited to submit patient photos, diagnoses, and phenotypes to the HIPAA-compliant Face2Gene CLINIC system for analysis.


How it works?

To get started register for a free Face2Gene account at or through the app on your mobile device.

To create a standard lab report, navigate to the applicable case and click on the Create Case Report icon.



You will have three choices, one of which produces a report that removes all PHI content.  You may also choose to create a custom report and select case content you wish to include and any that you wish to omit from the report.



Get a more detailed overview at


Blueprint is sponsoring cases uploaded through Face2Gene with a $1 donation to related advocacy. In total Blueprint Genetics will be sponsoring three months: March, May and September.

  • March – RASopathies
  • May – Metabolic conditions, including storage disorders
  • September – Craniosynostoses and Craniofacial conditions

Blueprint Genetics is sponsoring a $1 donation to related advocacy groups, up to $2,500 per month. Cases from other rare diseases can be shared as well during 2017 and they will be included in the search for discoveries as resources permit. Find the whole discovery schedule and get involved at

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