Gene chip for high-depth sequencing of gene mutation, preparation method and applications thereof

A gene chip, deep sequencing technology, applied in biochemical equipment and methods, microbial determination/inspection, chemical library, etc., can solve the problems of low content, low mutation frequency of tumor markers, low DNA content, etc.

Pending Publication Date: 2020-05-08
BGI GENOMICS CO LTD +2
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Problems solved by technology

[0004] The content of circulating tumor DNA in the blood will change with the development of the tumor and the occurrence of metastatic tumors, but the overall content of circulating tumor DNA in plasma will be much lower than that obtained from cancer tissues, especially for early screening As for samples for prognostic monitoring, the content will be lower, which makes the tumor marker mutation frequency in plasma circulating DNA lower than that in cancer tissue, which requires ultra-high depth sequencing of plasma circulating DNA in order to more accurately detect early tumor markers
However, for ultra-high-depth sequencing of plasma circulating DNA, the use of whole-genome or whole-exome sequencing will greatly increase the cost

Method used

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  • Gene chip for high-depth sequencing of gene mutation, preparation method and applications thereof
  • Gene chip for high-depth sequencing of gene mutation, preparation method and applications thereof
  • Gene chip for high-depth sequencing of gene mutation, preparation method and applications thereof

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preparation example Construction

[0050] (1) The preparation method of this application constructs a capture interval library adapted to it according to different mutation types, and then designs a gene chip suitable for different mutation types. For example, for CNV hotspot genes, this application adds these hotspots The heterozygous SNV locus of the gene, of course, the selection of the number of heterozygous SNV loci is related to the size of the gene, and the appropriate number of heterozygous SNV loci is selected for each gene, and the final capture interval library is the union of the above-mentioned intervals , thus ensuring the detection of CNV.

[0051] (2) The preparation method of this application not only considers the individual needs of the product, but also comprehensively considers TCGA, ICGC, COSMIC and other databases, so that the gene chip can cover the relevant Driver Gene, high-frequency mutation gene, High-frequency mutation sites, important genes in 12 cancer-related signaling pathways, ...

Embodiment

[0056]The preparation method of gene chip for high-depth sequencing of gene mutation in this example includes different mutation types such as single nucleotide variation, insertion-deletion mutation, copy number mutation and structural variation, combined with the mutation information of the gene mutation online database and the local database, Build a capture interval library; design a gene chip based on the capture interval library, improve the capture quality and efficiency of the gene chip, and achieve high-depth sequencing. According to different mutation types, the capture interval library is divided into single nucleotide variation and insertion-deletion mutation capture interval library, copy number mutation capture interval library, and structural variation capture interval library. This example uses different samples to explain in detail the construction of the indel mutation capture interval library, the construction of the copy number mutation capture interval libr...

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Abstract

The invention discloses a gene chip for high-depth sequencing of gene mutation, a preparation method and applications thereof. The preparation method of the gene chip comprises the following steps: constructing capture interval libraries by combining a gene mutation online database and a local database according to different mutation types; and designing a gene chip by the capture interval library, so that the capture quality and the capture efficiency are improved, and high-depth sequencing is realized, wherein the mutation types comprise at least one selected from mononucleotide variation, insertion and deletion mutation, copy number mutation and structural variation, and the capture interval libraries comprise a mononucleotide variation and insertion and deletion mutation capture interval library, a copy number mutation capture interval library and a structural variation capture interval library. According to the preparation method of the gene chip, mutant people can be covered to the maximum extent, cancers and related genes thereof can be covered to the maximum extent, and the gene chip suitable for Chinese people is designed. The gene chip disclosed by the invention is high in sequencing depth, and is particularly suitable for detecting extremely trace circulating DNA in blood.

Description

technical field [0001] The present application relates to the field of nucleic acid sequencing, in particular to a gene chip for high-depth sequencing of gene mutations and its preparation method and application. Background technique [0002] Tumors are one of the diseases that seriously threaten human health, and tumors are highly heterogeneous, that is, tumors in different parts have different characteristics. Even for tumors in the same part, the treatment effect varies from person to person. In order to improve the effect of clinical tumor treatment, it is imperative to carry out individualized tumor treatment based on human factors and time, considering the individual differences of tumors and the characteristics of tumor cell development and evolution. With the development of the field of cancer cognition and the advancement of science and technology, genome sequencing technology has gradually entered the clinical application of tumors, and many amazing results have em...

Claims

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Application Information

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IPC IPC(8): C40B50/06C40B40/06C12Q1/6886
CPCC12Q1/6886C12Q2600/118C12Q2600/156C40B40/06C40B50/06
Inventor 王春丽蔡宇航师妍杨颖陈希刘军
Owner BGI GENOMICS CO LTD
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