Systems and Methods For RNA Analysis In Functional Confirmation Of Cancer Mutations

摘要

Contemplated systems and methods integrate genomic/exomic data with transcriptomic data by correlating a cancer associated mutation in the genome/exome with the transcription level of the affected gene carrying the mutation, particularly where the mutation is a 3-terminal nonsense mutation.

主权项

1. A method of processing omics data, comprising:
informationally coupling a database with an analysis engine, wherein the database stores a genomic data set and a transcriptomic data set;
wherein the genomic data set is representative of a mutation in at least one gene of a diseased tissue of a patient, and wherein the mutation is relative to a normal tissue of the patient;wherein the transcriptomic data set is representative of the mutation in and expression level of the at least one gene of the diseased tissue of the patient, and wherein the mutation and expression level are relative to the normal tissue of the patient; using the sequence analysis engine to:
(a) associate the transcriptomic data set with the genomic data set using the mutation;(b) identify the mutation as a nonsense mutation, and upon identification of the mutation as nonsense mutation to:(c) identify a position of the mutation within the 3′-end portion of the at least one gene; and(d) identify the expression level of the at least one gene; and updating or generating, by the analysis engine, an omics record in an omics database using the position of the mutation and the expression level.