Systems and methods for diagnosing inherited retinal diseases

摘要

A method for automatically diagnosing inherited retinal disease includes receiving a plurality of dissimilar types of data and pre-processing at least one of the plurality of dissimilar types of data to generate a feature vector descriptive of a patient. Further, the method includes, for each of the plurality of dissimilar types of data: (i) comparing portions of the respective type of data or a corresponding feature vector to data in a mutation proven database; (ii) generating a ranked list of matches between the patient and the plurality of patients with known diagnoses; and (iii) storing the ranked list of matches in an output database. A diagnosis routine then aggregates a plurality of ranked lists of matches in the output database to generate a ranked list of genetic diagnoses corresponding to the patient and sends an indication of the ranked list of genetic diagnoses to the end user device.

主权项

1. A computer-implemented method for automatically diagnosing inherited retinal disease, the method comprising:
receiving, via a network interface, a plurality of dissimilar types of data from an end user device, the plurality of dissimilar types of data being related to retinal disease and the plurality of dissimilar types of data corresponding to a patient; pre-processing, by one or more processors, at least one of the plurality of dissimilar types of data to generate a feature vector descriptive of the patient; for each of the plurality of dissimilar types of data: comparing, by the one or more processors, portions of the respective type of data or a corresponding feature vector to data in a mutation proven database, wherein the data in the mutation proven database is similar to the respective type of data and wherein the data in the mutation proven database corresponds to a plurality of patients with known genetic diagnoses, generating, by the one or more processors, a ranked list of matches between the patient and the plurality of patients with known genetic diagnoses, and storing, by the one or more processors, the ranked list of matches in an output database, aggregating, by the one or more processors, a plurality of ranked lists of matches in the output database to generate a ranked list of genetic diagnoses corresponding to the patient; and sending, via the network interface, an indication of the ranked list of genetic diagnoses to the end user device.