Methods and compositions of molecular profiling for disease diagnostics
AssigneeVeracyte, Inc.
InventorsGiulia C. Kennedy, Bonnie H. Anderson, Darya I. Chudova, Eric T. Wang, Hui Wang, Moraima Pagan, Nusrat Rabbee, Jonathan I. Wilde
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Abstract
The present invention relates to compositions, kits, and methods for molecular profiling and cancer diagnostics, including but not limited to gene expression product markers, alternative exon usage markers, and DNA polymorphisms associated with cancer. In particular, the present invention provides molecular profiles associated with thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.
Claims30
A computer system for providing a classification as to whether a sample of thyroid tissue is benign or malignant, comprising:
- (a) an input that accepts assay data comprising an expression level of one or more microRNAs in a sample of thyroid tissue, which sample of thyroid tissue is obtained from a subject suspected of having thyroid cancer;
- (b) storage media operatively coupled to said input that stores said assay data comprising said expression level;
- (c) a computer processor that is programmed to (i) access said assay data in said storage media, (ii) perform a comparison of said expression level in said sample of thyroid tissue to an expression level of said one or more microRNAs in one or more sets of reference samples to provide a differential expression level of said one or more microRNAs with respect to said one or more sets of reference samples, and (iii) based on said comparison, classify said sample of thyroid tissue as benign or malignant at a sensitivity greater than 90% and a specificity greater than 95%;
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- (d) an output that provides said classification to a user.
A method for diagnosing a subject suspected of having thyroid cancer, comprising:
- (a) obtaining a sample of thyroid tissue from said subject;
- (b) assaying said sample of thyroid tissue for an expression level for one or more microRNAs in said sample of thyroid tissue;
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- (c) classifying said sample of thyroid tissue as benign or malignant by applying an algorithm to said expression level from step (b), said algorithm comprising comparing said expression level in said sample of thyroid tissue to an expression level of said one or more microRNAs in one or more sets of reference samples to provide a differential expression level of said one or more microRNAs with respect to said one or more sets of reference samples, wherein said algorithm has a sensitivity greater than 90% and a specificity greater than 95%.
Dependencies are inferred from the claim text.