Systems and methods for diagnosing inherited retinal diseases

• Main Authors: Ranella Christopher R, Zahid Sarwar, Johnson-Roberson Matthew K, Huang Jillian T, Huang Zhao, Lynch Andrew M, Schachar Ira, Khan Naheed W, Hohner Gail, Al-Tarouti Amani, Kaspar Carla S, Albertus Daniel L, Patel Nathan T, Jayasundera Kanishka T, Tahir Adnan
• Format: Patent
• Language: English
• Published: 20.12.2016
• Subjects: CALCULATING; COMPUTING; COUNTING; ELECTRIC DIGITAL DATA PROCESSING; HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATIONTECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING ORPROCESSING OF MEDICAL OR HEALTHCARE DATA; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

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.