Method for detecting tumor single cell somatic mutation

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 ...

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Problems solved by technology

However, a large number of random and systematic errors introduced by single-cell amplification and sequencing have seriously affected the detection of somatic mutations in single-cell tumors.

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