Clinical decision support systems employing reverse phenotyping
AssigneeAlbert Einstein College of Medicine
InventorJohn Greally
Life of this patent
Estimating the term…
Abstract
Clinical decision support systems employing reverse phenotyping. In various embodiments, genomic information of a patient is read from a datastore. One or more variant of the genomic information is determined. The one or more variant is associated with a disease state. One or more phenotypic features are determined, associated with the one or more variant. A healthcare provider is prompted to evaluate the patient for the one or more phenotypic features.
Claims22
A method comprising:
- reading genomic information of a patient from a datastore;
- determining one or more variant of the genomic information, the one or more variant being associated with a disease state;
- determining one or more phenotypic features associated with the one or more variant;
- prompting a healthcare provider to evaluate the patient for the one or more phenotypic features.
A system comprising:
- a datastore containing genomic information of a patient;
- a computing node comprising a computer readable storage medium having program instructions embodied therewith, the program instructions executable by a processor of the computing node to cause the processor to perform a method comprising:
- reading the genomic information of the patient from the datastore;
- determining one or more variant of the genomic information, the one or more variant being associated with a disease state;
- determining one or more phenotypic features associated with the one or more variant;
- prompting a healthcare provider to evaluate the patient for the one or more phenotypic features.
20-22. (canceled)
A computer program product for clinical decision support, the computer program product comprising a computer readable storage medium having program instructions embodied therewith, the program instructions executable by a processor to cause the processor to perform a method comprising:
- reading genomic information of a patient from a datastore;
- determining one or more variant of the genomic information, the one or more variant being associated with a disease state;
- determining one or more phenotypic features associated with the one or more variant;
- prompting a healthcare provider to evaluate the patient for the one or more phenotypic features.
24-33. (canceled)
Dependencies are inferred from the claim text.