Face2Gene is a suit of technologies that aims to help clinicians to fasten the time of diagnosis of rare and ultra-rare genetic conditions. You might know the best-of-its-class Next-Generation Phenotyping ai facial recognition use of this app, but there are more tools at your disposal that facilitate comprehensive and precise genetic evaluations.
Check out all the tutorials available to help you master Face2Gene:
How to Change the View in Face2Gene
Learn how to choose between the Geneticist and Pediatrician views in Face2Gene.
Face2Gene Mobile Demo
The Pediatrician View
The Pediatrician View is a technology recently developed by FDNA and available on Face2Gene that allows physicians to receive guidance on the level of facial dysmorphology a patient may have. This may support the decision to refer the patient for a genetic diagnostic study.
How to use Face2Gene as a Team
Face2Gene is used by both individuals and by teams who manage and share cases as a group. The Face2Gene Teams feature is designed for teams and genetics departments to streamline case and workflow management. If your team would like to use the Teams feature, create your free Face2Gene accounts and contact us at success@fdna.com to set up your team.
How to use the Ultra-Rare and Undiagnosed tab?
Face2Gene now has the GestaltMatcher algorithm for you to match Ultra-rare and Undiagnosed Cases.
Under the Ultra-rare tab, with the new algorithm GestalMatcher, the patient’s photos are matched to a molecular diagnosis even when the disorder was not part of the DeepGestalt (Rare Tab) training set.
Similarities among patients with previously unknown disease genes can also be detected, and these are displayed in the Undiagnosed tab. If a patient can be a possible match, you can connect to the clinician.
Assigning a diagnosis in Face2Gene
Assigning a diagnosis to your cases, helps the patient community worldwide to benefit from your experience today in the clinic.
Sequencing Upfront
In just one click, find the geno/ phenotype correlation for your patient. Search for a specific gene:
Or look up the top genes within Face2Gene results.
Instantly extract features from a dictated clinical note
No time to write the clinical note? Simply say it and it will be written down. By clicking “Extract Features”, the relevant traits/features (HPO terms) will be suggested for you to add to your patient’s analysis. Coming soon to your mobile app.
View a Graphical display of your patient’s top syndrome-matches
What syndromes clusters are close to my patient? This graphical view provides a t-SNE visualization: a 2D projection of your case in the Clinical Face Phenotype Space as compared to the top-10 syndromes analyzed in Rare and Ultra-Rare. Check this Nature publication for more information
Sort syndrome-matches by facial analysis only
Sometimes we need to analyze results based on their source: the facial photo or the patient’s clinical features? This new sorting capability allows you to do just that, By unclicking, the combined results will return.
Add facial analysis to your London Medical Database (LMD) results
Conducted an extensive feature search in LMD and now wonder what the facial analysis would add to the results? Now it is possible. After using the advanced search- capabilities of the LMD Library, you can now simply add a photo by exporting the search criteria used. More info on LMD.
Face2Gene Clinic Overview
New to Face2Gene on the web?
Signing In | Case List | New Case | Add Features | Extract Features | Feature Meter | Share Phenotype