Invention Grant
- Patent Title: Machine learning systems and methods to diagnose rare diseases
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Application No.: US17482810Application Date: 2021-09-23
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Publication No.: US12211619B2Publication Date: 2025-01-28
- Inventor: Cliona Marie Molony , Alexandra Dumitriu
- Applicant: Sanofi
- Applicant Address: FR Paris
- Assignee: Sanofi
- Current Assignee: Sanofi
- Current Assignee Address: FR Paris
- Agency: Fish & Richardson P.C.
- Priority: EP20315486 20201208,EP21315160 20210915
- Main IPC: G16H50/20
- IPC: G16H50/20 ; G06N5/022 ; G16H10/60 ; G16H50/70 ; G16H70/60 ; G06F40/279

Abstract:
A machine-learned model to diagnose patients with a rare disease based on medical data/records, and methods of training such a model are disclosed. A computer implemented method is disclosed for generating a training dataset for training a machine-learning model to identify individuals with a rare disease. The method comprises: receiving an initial dataset comprising medical data relating to a plurality of individuals with the rare disease; identifying a plurality of clusters of individuals in the initial dataset; identifying one or more of the clusters as being least representative of the rare disease; removing one or more of the individuals from the one or more clusters identified as being least representative based on the medical data of said one or more individuals to generate a pruned dataset; and combining the pruned dataset with a control dataset comprising a plurality of individuals without the rare disease to generate the training dataset.
Public/Granted literature
- US20220093255A1 MACHINE LEARNING SYSTEMS AND METHODS TO DIAGNOSE RARE DISEASES Public/Granted day:2022-03-24
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