Systems and Methods for Analysis and Interpretation of Nucleic Acid Sequence Data

Abstract

Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated.

Description

RELATED APPLICATIONS[0001]This application claims priority pursuant to 35 U.S.C. §119(e) to U.S. Provisional Patent Application Ser. No. 61 / 545,895, entitled “User Interface for Analysis and Interpretation of Nucleic Acid Sequence Data”, filed on Oct. 11, 2011, U.S. Provisional Patent Application Ser. No. 61 / 545,922, entitled “Systems and Methods for Analyzing and Interpreting Nucleic Acid Sequence Data”, filed on Oct. 11, 2011, U.S. Provisional Patent Application Ser. No. 61 / 598,499, entitled “Systems and Methods for Analysis and Interpretation of Nucleic Acid Sequence Data”, filed on Feb. 14, 2012, and U.S. Provisional Patent Application Ser. No. 61 / 640,389, entitled “Systems and Methods for Analysis and Interpretation of Nucleic Acid Sequence Data”, filed on Apr. 30, 2012, the entireties of which are incorporated herein by reference as if set forth in full.FIELD[0002]The present disclosure generally relates to nucleic acid sequence data and in particular to user interfaces, syste...

AI Technical Summary

Benefits of technology

The patent text discusses the need for improved tools to analyze and interpret the large amount of nucleic acid sequence data that is being generated by researchers. The technical effect of this patent is to provide user interfaces, systems, and methods for annotating genomic variants detected in nucleic acid sequence data, which can help to quickly and efficiently analyze and interpret this data in a way that is useful for diagnostic and therapeutic purposes.

Problems solved by technology

As such sequencing systems incorporating NGS technologies can produce a large number of short sequence reads in a relatively short amount time.

While the quantity of nucleic acid sequence data that one can gather using conventional sequencing techniques is very large, it can often not be presented or analyzed in the most useful context.

Conventional techniques do not facilitate easy correlation of candidate gene mutations with the wealth of information that is currently available that can provide functional or interpretive context to the mutations.

This is due to the enormous amount of information being generated by researchers and the lack of adequate tools to organize the information in a manner which facilitates analysis of the same.

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