Systems, methods, and computer-readable media for determining when a subject is likely to be affected by a genetic disorder

摘要

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.

主权项

1. A computer-implemented method 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 each of two or more genetic disorders, the computer-implemented method comprising:
using a plurality of cranio-facial images of positive and negative individuals, calculating, with processing circuitry, descriptors derived from features in each of a plurality of cells within a grid imposed on each of the plurality of cranio-facial images of at a first set of first positive individuals having a first genetic disorder, and a second set of second positive individuals having a second genetic disorder, and at least one negative individual who lacks at least one of the first genetic disorder and the second genetic disorder; producing, with the processing circuitry, a plurality of vectors by aggregating the descriptors of the plurality of cells in the plurality of cranio-facial images of the positive individuals and by aggregating the descriptors of the plurality of cells in the plurality of cranio-facial images of the negative individuals; using an image of the subject, calculating, with the processing circuitry, descriptors derived from features in each of a plurality of cells within a grid imposed on the image of the subject; producing, with the processing circuitry, one or more vectors by aggregating the descriptors of the plurality of cells in the cranio-facial image of the subject; implementing, with the processing circuitry, a cranio-facial comparison of the plurality of vectors of the images of the positive and negative individuals with the one or more vectors of the image of the subject, by computing a distance metric between each of the plurality of vectors and each of the one or more vectors; determining, with the processing circuitry, based on the comparison, a subset of the plurality of vectors more similar to the one or more vectors than a remainder of the plurality of vectors; and determining, with the processing circuitry, a first probability score indicating a likelihood that the subject has the first genetic disorder, and a second probability score, indicating a likelihood that the subject has the second genetic disorder, by analyzing whether vectors in the determined subset of the plurality of vectors are derived from the first set of first positive individuals and the second set of second positive individuals.