Systems and methods for analyzing nucleic acid

Abstract

Increased sensitivity and specificity of characterizing patient-specific variations as mutations that are indicative of a cancer or other disease by identifying patient-specific tumor mutations by comparing tumor and normal sequence reads from the patient and filtering for mutations that are unique to the tumor. By comparing tumor sequence to a normal sequence from the same patient, false-positivemutation calls are minimized in the analysis.

Description

[0001] Cross References to Related Applications [0002] This application claims the benefit and priority of U.S. Provisional Patent Application No. 62 / 133,638, filed March 16, 2015, the contents of which are incorporated herein by reference. technical field [0003] The present invention relates to the analysis of tumor-specific biomarkers in nucleic acids. Background technique [0004] Genomic analysis has become an integral part of healthcare. Genomic mutations that accumulate over time can indicate the presence, type and severity of disease. A thorough understanding of an individual's mutational profile could lead to personalized diagnosis, more accurate prognosis and customized treatment options, which can help prolong the lives of patients and help avoid painful and costly treatments. [0005] Personalized medicine relies heavily on the accurate identification of mutations in a patient's genome, including DNA and RNA. While there are many diseases that can be classi...

AI Technical Summary

Problems solved by technology

For example, if normal sequence variants are misinterpreted as cancerous mutations, this can lead to misdiagnosis, incorrect prognosis, or ineffective treatment

Alternatively, if an actual cancerous mutation is incorrectly ruled out as a sequencing error or as a normal variant, the patient may miss out on otherwise promising therapeutic opportunities

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