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Site combination, method, kit and system for detecting tumor mutation burden

A technology of mutation load and detection method, applied in the field of biomedicine, can solve the problems of missed detection of low-coverage sites, low detection depth, limited clinical patient benefit, etc., and achieve accurate prediction of benefit, low detection cost, and consistency. high effect

Active Publication Date: 2019-06-14
GENESEEQ TECH INC +1
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Problems solved by technology

However, whole-exome testing is expensive, with low detection depth, and may miss detection of low-coverage sites; at the same time, whole-exome testing is currently mainly used in scientific research, with limited benefits for clinical patients
Researchers are actively exploring methods based on capture sequencing (Panel) to detect TMB, which can effectively reduce the cost of sequencing, and can prompt patients with targeted therapy, immunotherapy, genetic risk and other benefits through a single test, but panel-based There are no shortage of challenges with the accuracy and reliability of methods for detecting tumor mutational burden

Method used

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  • Site combination, method, kit and system for detecting tumor mutation burden
  • Site combination, method, kit and system for detecting tumor mutation burden
  • Site combination, method, kit and system for detecting tumor mutation burden

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[0038] definition or term

[0039] 1. High-throughput sequencing: refers to the second-generation high-throughput sequencing technology and subsequent higher-throughput sequencing methods. Next-generation sequencing (NGS) platforms include but are not limited to Illumina (Miseq, Hiseq2000, Hiseq2500, Hiseq3000, Hiseq4000, HiseqX Ten, etc.), ABI-Solid and Roche-454 sequencing platforms, etc. With the continuous development of sequencing technology, those skilled in the art can understand that other sequencing methods and devices can also be used for this detection. According to a specific example of the present invention, the nucleic acid tag according to the embodiment of the present invention can be used in at least one of Illumina, ABI-Solid and Roche-454 sequencing platforms for sequencing.

[0040] 2. Reads: refers to the sequence information from a part of the nucleic acid sample. Typically, though not necessarily, reads represent short sequences of contiguous base pa...

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Abstract

The invention relates to a site combination for detecting tumor mutation burden (TMB) based on Panel sequencing, a processing procedure and a computing method, and belongs to the technical field of biomedicine. A method for detecting the tumor mutation burden comprises the steps that specific sites in a target detection area are optimized; high-frequency mutation sites related to tumor genesis anddevelopment in Chinese population are excluded, and synonymous mutations are included, so that TMB results based on Panel and full-exon sequencing are highly consistent, and a clinical predictive effect is more ideal in the real world.

Description

technical field [0001] The invention relates to a site combination, processing flow and calculation method for detecting tumor mutation burden (TMB) based on capture sequencing, and belongs to the technical field of biomedicine. Background technique [0002] Immunotherapy has greatly improved the survival of patients with advanced cancer. In the past two years, several immune drugs such as pembrolizumab have been approved for the first-line treatment of tumor patients. However, the overall response rate of immunotherapy is low, and it is imminent to find some suitable biomarkers to screen out the advantageous population of immunotherapy. [0003] The expression of tumor PD-L1 is the first biomarker approved for immunotherapy, but some advanced patients may lack sufficient tumor samples for PD-L1 detection, and problems such as poor consistency of different detection platforms may limit PD. -L1 application. [0004] As a potential biomarker for predicting the efficacy of...

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
Inventor 邵阳张宪王富锋那成龙殷嘉妮郑佳
Owner GENESEEQ TECH INC
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