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Method for detecting haploid copy number variation of tumor unicell genome

A single-cell and genome technology, applied in biochemical equipment and methods, microbial determination/inspection, etc., can solve the problem that single-cell data cannot function normally.

Active Publication Date: 2019-07-19
PEKING UNIV
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Problems solved by technology

However, in the current method strategy, there is no effective analysis method for single-cell sequencing technology.
On the other hand, conventional large-scale cell (bulk) sequencing methods cannot work normally on single-cell data.

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  • Method for detecting haploid copy number variation of tumor unicell genome
  • Method for detecting haploid copy number variation of tumor unicell genome
  • Method for detecting haploid copy number variation of tumor unicell genome

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Embodiment Construction

[0029] 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.

[0030] In this example, 21 circulating tumor cells from a patient with small cell lung cancer, a conventionally sequenced blood bulk control, and two tumor tissue controls were used as samples, and the genomic haploid copies of tumor single cells were analyzed based on next-generation sequencing technology. number for research.

[0031] 1. Sample requirements and single cell amplification and sequencing

[0032] The samples were 21 circulating tumor cells from the same small cell lung cancer case, a large number of blood cell controls, and two tumor tissue (bulk) controls, and all single cells were subjected to single cell expansion using MALBAC single cell expansion tech...

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Abstract

The invention discloses a method for detecting haploid copy number variation of tumor unicell genome. The method combines the population polymorphism site information of the tumor unicell and the change information of the genome copy number to analyze an abnormal region of the tumor unicell genome allele copy number, Compared with simple genome copy number changes or somatic mutations, one more dimension is increased, different unicell alleles can be effectively distinguished to from a zone with proportion abnormity, which has important significance for describe the heterogeneity of tumor genome and tumor genome evolution information.

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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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6869
CPCC12Q1/6869G16B20/00G16B30/00C12Q2537/16C12Q2531/113
Inventor 苏哲倪晓晖高妍白凡
Owner PEKING UNIV
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