Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature

Inventors

Gelbman, Dekel • Gurovich, Yaron

Assignees

FDNA Inc

Abstract

Systems, methods, and computer-readable media are disclosed for identifying when a subject is likely to be affected by a medical condition. For example, at least one processor may be configured to receive information reflective of an external soft tissue image of the subject. The processor may also be configured to perform an evaluation of the external soft tissue image information and to generate evaluation result information based, at least in part, on the evaluation. The processor may also be configured to predict a likelihood that the subject is affected by the medical condition based, at least in part, on the evaluation result information.

Core Innovation

A computer-implemented method analyzes a plurality of cranio-facial external soft tissue images associated with a plurality of individuals having at least one genetic variant. The method receives the images, generates electronic characterizations of each image, and associates the electronic characterizations in an electronic database with the at least one genetic variant. The method analyzes the electronic characterizations to identify at least one populational predictor location associated with an external soft tissue attribute predictive of the at least one genetic variant.

The method receives a cranio-facial external soft tissue image of a subject and analyzes the subject image to identify a subject predictor location corresponding to the populational predictor location. The method compares information associated with pixels corresponding to the populational predictor location with information associated with pixels corresponding to the subject predictor location. Based on determining whether a common dysmorphology exists between the subject predictor location and the populational predictor location, the method predicts whether the subject has the at least one genetic variant.

The disclosed approach is implemented as a method, an electronic device, and a non-transitory computer-readable medium. Each implementation performs receiving the plurality of cranio-facial external soft tissue images, generating electronic characterizations, associating characterizations with the at least one genetic variant, and identifying populational predictor locations predictive of the at least one genetic variant.

Claims Coverage

The document provides three independent claims: a computer-implemented method, an electronic device, and a non-transitory computer-readable medium. Each independent claim centers on identifying populational predictor locations from training individuals and predicting a subject’s likelihood of having at least one genetic variant based on common dysmorphology between pixel-associated locations.

Across the independent method, device, and computer-readable medium claims, the inventive coverage is directed to electronic characterization of cranio-facial external soft tissue images, association with genetic variants to learn populational predictor locations, identification of corresponding subject predictor locations, pixel-associated comparison, determining common dysmorphology, and predicting whether the subject has the at least one genetic variant.

Stated Advantages

Documented Applications

No documented applications found