Method for detecting tumor single cell somatic mutation

A somatic cell mutation and single-cell technology, applied in biochemical equipment and methods, microbial measurement/testing, etc., can solve the problems affecting the detection of tumor single-cell somatic cell mutations, random and systematic errors, etc.

Active Publication Date: 2019-08-06
PEKING UNIV
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Problems solved by technology

However, a large number of random and systematic errors introduced by single-cell amplificati...

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  • Method for detecting tumor single cell somatic mutation
  • Method for detecting tumor single cell somatic mutation
  • Method for detecting tumor single cell somatic mutation

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Embodiment Construction

[0032] The following is a more detailed description of the implementation of the present invention, in which the parameters and specific implementation details are used to explain the feasibility and implementation effect of the present invention, and do not constitute a limitation of the present invention.

[0033]In this example, the circulating tumor cells, single white blood cells, routinely sequenced blood bulk control and tumor tissue control of ten patients with small cell lung cancer were used as samples, and the somatic mutation of tumor single cells was studied based on next-generation sequencing technology .

[0034] 1. Sample requirements and single cell amplification and sequencing

[0035] The samples were circulating tumor cells from ten cases of small cell lung cancer (the number of circulating tumor cells ranged from 4 to 25 for each case), corresponding monoleukocytes (one for each case), and corresponding blood cells (one for each case) One sample per case)...

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Abstract

The invention discloses a method for detecting tumor single cell somatic mutation. The method combines the population polymorphism site information of the tumor single cell and the genomic copy numberchange information for analysis, takes full account of the random base substitutions that may be introduced by a single-cell amplification technology and the systematic biases that may be introducedby corresponding genomic amplification and sequencing technologies, improves the accuracy of somatic mutation detection, and has important significance for the heterogeneity description of tumor genome and the information of tumor genome evolution.

Description

technical field [0001] The invention relates to the fields of single-cell genome sequencing, tumor genome analysis, single-cell mutation analysis, and bioinformatics, and specifically relates to a method for detecting genome heterogeneity and intercellular evolution relationship of tumor single-cell genome haploid copy number variation analysis. Background technique [0002] Genome sequencing technology has been widely used in the basic research of life sciences and some corresponding translational science applications. At present, the second-generation short-sequence sequencing technology based on Solexa sequencing technology has shown its wide application scope and huge application prospects. Based on different purposes, we can directly sequence DNA to assemble new species or detect changes in the genome of species with reference sequences, such as: single nucleotide polymorphism (SNP, singlenucleotide polymorphism), short sequence insertion or deletion (INDEL, insertion ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12Q1/6869
CPCC12Q1/6869C12Q1/6886C12Q2600/156
Inventor 苏哲倪晓晖高妍白凡
Owner PEKING UNIV
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