METHOD AND SYSTEM FOR RAPID GENETIC ANALYSIS
First Claim
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1. A method comprising:
- a) determining a phenome of a subject from an electronic medical record (EMR), wherein the phenome comprises a plurality of clinical phenotypes extracted from the EMR;
b) translating the clinical phenotypes into standardized vocabulary;
c) generating a first list of potential differential diagnoses of the subject;
d) performing genetic sequencing of a DNA sample from the subject;
e) determining genetic variants of the DNA;
f) analyzing the results of (c) and (e) to generate a second list of potential differential diagnoses of the subject, the second list being rank ordered; and
g) generating a report comprising results of the analysis of (f).
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Abstract
The present disclosure provides a method for genetic analysis disease diagnoses as well as a system for implementing such analysis.
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39 Claims
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1. A method comprising:
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a) determining a phenome of a subject from an electronic medical record (EMR), wherein the phenome comprises a plurality of clinical phenotypes extracted from the EMR; b) translating the clinical phenotypes into standardized vocabulary; c) generating a first list of potential differential diagnoses of the subject; d) performing genetic sequencing of a DNA sample from the subject; e) determining genetic variants of the DNA; f) analyzing the results of (c) and (e) to generate a second list of potential differential diagnoses of the subject, the second list being rank ordered; and g) generating a report comprising results of the analysis of (f). - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37)
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38. A method comprising:
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a) generating a plurality of electronic medical records (EMRs) for a plurality of subjects; b) determining a plurality of phenomes of the plurality of subjects from the EMRs using natural language processing, wherein the phenomes each comprise a plurality of clinical phenotypes extracted from each of the EMRs; and c) storing on a non-transitory memory the plurality of EMRs, the plurality of phenomes, and the plurality of clinical phenotypes to generate a searchable database; d) utilizing the database to screen for a disease or disorder in a new subject or to update a diagnosis of one of the plurality of subjects. - View Dependent Claims (39)
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Specification