Method for identifying chromosome outer circular DNA composition gene of tumor cell
An extrachromosomal and tumor cell technology, applied in the field of identification of extrachromosomal circular DNA constituent genes of tumor cells, can solve the problems of low resolution, unrealizable detection, limitations, etc., and achieve the effect of ensuring accuracy
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Embodiment 1
[0060] figure 1 It is a flowchart of an embodiment of the present invention, such as figure 1 As shown, this embodiment provides a method for identifying genes constituting extrachromosomal circular DNA of tumor cells, which includes the following steps:
[0061] Step 1: Perform whole-genome next-generation sequencing on the sample to be analyzed through the illumina platform (the next-generation sequencing platform provided by Illumina), and obtain the filtered fastq format (a text format that stores biological sequences and corresponding quality evaluations) Next-generation sequencing results of files and quality control;
[0062] In this embodiment, among them, step 1 specifically is:
[0063] Step 11: Use barcode (DNA barcode) + NGS (Next Generation Sequencing, next-generation sequencing technology, that is, high-throughput sequencing) to perform sequencing. Specifically, perform whole-genome next-generation sequencing on the sample to be analyzed through the illumina pl...
Embodiment 2
[0102] In this example, the human ovarian cancer cell line UACC-1598 is used as the material, and the method for identifying the genes constituting extrachromosomal circular DNA of tumor cells is as follows:
[0103] Step 1: The fastq file is obtained through next-generation sequencing, and the quality is qualified after performing quality control according to the standard of removing reads with a ratio of N greater than 10%. figure 2 It is a schematic diagram of part of the results obtained by performing step 1 in an embodiment of the present invention, such as figure 2 Partial quality control qualified reads are shown. Then, the extracted fastq file was compared with the hg19 reference genome by BWA software, and the first bam format file after comparison was obtained.
[0104] Step 2: Use CNVkit to filter out the regions with Copynumber>3 and Length(kb)>100, as shown in the partially screened examples shown in Table 1.
[0105] Table 1
[0106]
[0107] Step 3: Use ...
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