Method for analyzing tumor mutation load on the basis of next-generation sequencing data of single sample

A mutation load and next-generation sequencing technology, which is applied in sequence analysis, electrical digital data processing, special data processing applications, etc., can solve the problems of increasing the cost of experiments and sequencing

Active Publication Date: 2018-08-31
GENEIS TECH BEIJING CO LTD
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  • Description
  • Claims
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AI Technical Summary

Problems solved by technology

Most of the existing technologies use tumor samples and their corresponding paired samples for whole genome sequencing, whole exome sequencing or target region gene panel sequencing to predict and analyze TMB, although this method can obtain more accurate somatic mutations The results are used to calculate the TMB, but in terms of cost, the same sample needs to be sequenced twice as a sample-control experiment, which not only relatively increases the cost of experiments and sequencing, but also increases the complexity of data analysis and interpretation

Method used

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  • Method for analyzing tumor mutation load on the basis of next-generation sequencing data of single sample
  • Method for analyzing tumor mutation load on the basis of next-generation sequencing data of single sample
  • Method for analyzing tumor mutation load on the basis of next-generation sequencing data of single sample

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Embodiment

[0044] Select 75 pancreatic cancer tumor samples, use the Geneis-508 Gene Panel kit (the kit contains exon regions of 226 genes, with a total size of 787,296bp) for hybrid capture and use Illumina Nextseq for paired-end 151bp sequence read length Sequencing was performed to obtain the data set Data-A (data of 75 sequencing samples).

[0045] Select 33 cases of lung adenocarcinoma tumor samples, use the Geneis-38CF Gene Panel kit (the kit contains the exon regions of 8 genes, the total size is 49,861bp) for hybrid capture and use Illumina Nextseq for paired-end 151bp sequence reading Sequencing was carried out to obtain the data set Data-B (data of 33 sequencing samples).

[0046] Download the analysis results of somatic cell data from the TCGA (The Cancer Genome Atlas, https: / / cancergenome.nih.gov / ) database to obtain the data set Data-C.

[0047] The 226 gene exon regions of the Geneis-508 Gene Panel were used to screen the somatic mutation results of the data set Data-C and...

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Abstract

The invention discloses a method for analyzing a tumor mutation load on the basis of the next-generation sequencing data of a single sample. The method disclosed by the invention does not need to detect contrast samples necessary for cell mutation or analyze the cell mutation, the experiment, sequencing and analysis steps of the contrast sample are saved, and therefore, cost and experiment, analysis and unscrambling complexities are greatly lowered.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a method for analyzing tumor mutation load based on single-sample next-generation sequencing data. Background technique [0002] In recent years, the research progress of immunotherapy has attracted more and more attention in the field of tumor treatment, among which the programmed death-1 (PD-1) protein and its ligand (PD-L1) have been used in various tumor treatments. Significant clinical curative effect was obtained. So far, there are as many as five PD-1 / PD-L1 antibody drugs approved by the US FDA. [0003] From the approved indications and the evidence provided by key clinical studies, the potential biomarkers that are more studied for PD-L1 include tumor mutation burden (TMB), microsatellite instability (MSI) and mismatch gene repair loss ( MMR), and tumor mutational burden (TMB) as the most studied biomarker, its effect has been confirmed in the use of PD-1 antibody in the ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/22
CPCG16B30/00
Inventor 郎继东田埂韩营民
Owner GENEIS TECH BEIJING CO LTD
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