Systems, methods, and computer-readable media for determining a likely presence of a genetic disorder

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

Disclosed is an electronic system for determining from a series of pixels in an image of external cranio-facial soft tissue whether a subject is likely to be affected by a medical condition. The system receives first electronic information reflective of first values corresponding to relationships between at least one group of pixels in the cranio-facial soft tissue image of the subject, analyzes the first sets of values for one or more dysmorphologies present in the image, and identifies a first dysmorphology and a medical feature.

The system determines whether a first association exists between the first dysmorphology and the medical condition, and whether a second association exists between the medical feature and the medical condition. It determines a first strength of the first dysmorphology as a predictor of the medical condition based on a commonality of the first dysmorphology with a general population of individuals who do not have the medical condition, and determines a second strength of the medical feature as a predictor of the medical condition based on a commonality of the medical feature amongst the general population of individuals who do not have the medical condition.

The system calculates a likelihood that the subject is affected by the medical condition by weighting the first dysmorphology as a function of the first strength of the first dysmorphology. The system further calculates the likelihood by weighting the first dysmorphology and the medical feature as a function of the second strength of the first dysmorphology and the medical feature.

Dependent embodiments further specify that the system assigns a severity score to a first dysmorphology and a medical feature, and calculate the likelihood that the subject is affected by the medical condition by weighting the first dysmorphology and the medical feature according to their respective severity scores.

Claims Coverage

The provided relevant claims include three independent claim types: an electronic system, a computer-implemented method, and a non-transitory computer-readable medium. Each independent claim includes the same core inventive feature set centered on computing a likelihood of a medical condition from external cranio-facial soft tissue image pixels by associating a dysmorphology with a medical feature and weighting predictor strengths based on commonality in a general population without the condition.

Across the independent claims, the inventive approach is to compute a likelihood that a subject is affected by a medical condition from external cranio-facial soft tissue image pixels by identifying a dysmorphology and a medical feature, determining associations, determining predictor strengths from commonality in a general population without the condition, and calculating the likelihood via weighting based on those strengths. Dependent claims add severity scoring and incorporate severity scores into the likelihood weighting.

Stated Advantages

Documented Applications

No documented applications found