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US 2019/0172551 A1Published application
Algorithms for disease diagnostics
AssigneeVeracyte, Inc.
InventorsGiulia C. KENNEDY, Darya I. CHUDOVA, Eric T. WANG, Jonathan I. WILDE
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Abstract
The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.
Claims21
-20. (canceled)
A method for processing or analyzing a tissue sample of a subject, comprising:
- (a) providing a nucleic acid sample derived from said tissue sample of said subject;
- (b) sequencing nucleic acid molecules derived from said nucleic acid sample to generate a data set;
- (c) using a programmed computer to process said data set to identify (i) a level of expression of one or more gene expression products in said nucleic acid sample, and (ii) one or more genetic mutations in said nucleic acid sample;
- (d) using a trained algorithm to process said level of expression and said one or more genetic mutations identified in (c) to generate a classification of said tissue sample as positive or negative for a disease at an accuracy of at least 90%;
- and
- (e) electronically outputting a report that identifies said classification of said tissue sample as positive or negative for said disease.
3 more elements
Dependencies are inferred from the claim text.