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Next-generation sequencing data processing method, device and electronic equipment

A next-generation sequencing and data technology, applied in the field of bioinformatics, can solve the problem that the next-generation sequencing data cannot be directly applied to clinical diagnosis

Active Publication Date: 2021-04-02
CHILDRENS HOSPITAL OF FUDAN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] The purpose of this application is to provide a next-generation sequencing data processing method, device and electronic equipment to solve the problem in the related art that the processed next-generation sequencing data cannot be directly applied to clinical diagnosis

Method used

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  • Next-generation sequencing data processing method, device and electronic equipment
  • Next-generation sequencing data processing method, device and electronic equipment
  • Next-generation sequencing data processing method, device and electronic equipment

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Embodiment

[0060] see figure 1 , figure 1 It is a flow chart of a method for processing next-generation sequencing data provided by an embodiment of the present application.

[0061] like figure 1 As shown, this embodiment provides a method for processing next-generation sequencing data, which at least includes the following steps:

[0062] Step 11. Obtain the next-generation sequencing data to be screened; the next-generation sequencing data to be screened includes the variant site to be screened and the corresponding first annotation; the first annotation includes sequencing information.

[0063] Among them, the sequencing information refers to the basic information generated by the next-generation sequencing technology, such as sequencing depth, quality level, location of variation sites on the genome, variation type and karyotype.

[0064] Wherein, the location of the mutation site refers to which nucleotide of which chromosome the mutation is located in the genome.

[0065] Amon...

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Abstract

The invention discloses a method and a device for processing next-generation sequencing data, and electronic equipment, wherein the method comprises the steps of obtaining to-be-screened next-generation sequencing data; wherein the to-be-screened next-generation sequencing data comprises to-be-screened variation sites and corresponding first notes; the first notes comprise sequencing information;acquiring a reference database; wherein the reference database at least comprises a first-class database, a second-class database, a third-class database, a fourth-class database, a fifth-class database and a sixth-class database; according to the reference database, performing note adding processing on the to-be-screened next-generation sequencing data, performing variation site screening processing on the to-be-screened next-generation sequencing data after note adding processing according to a preset strategy, and outputting the screened variation site and the first note after note adding.

Description

technical field [0001] The present application relates to the field of biological information technology, and in particular to a processing method, device and electronic equipment for next-generation sequencing data. Background technique [0002] Deoxyribose nucleic acid (deoxyribonucleic acid, DNA), is the main component of biological chromosomes, but also the main genetic material of organisms. The DNA molecule is a huge, sequence of nucleotides. DNA sequencing technology, that is, the technology of determining DNA sequence, is of great significance to biomedicine. Especially in medicine, by analyzing DNA sequence, it can assist clinical diagnosis. Sanger sequencing technology is the first-generation DNA sequencing technology. With the development of science and technology, the second-generation DNA sequencing technology (referred to as second-generation sequencing technology) has gradually matured. Compared with Sanger sequencing technology, next-generation sequencing t...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B50/00
CPCG16B20/20G16B50/00
Inventor 卢宇蓝黎籽秀
Owner CHILDRENS HOSPITAL OF FUDAN UNIV
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