Method for quickly annotating gene mutations of human beings

A gene mutation and mutation technology, applied in the field of medical genetics, can solve the problems of time-consuming and labor-intensive, inability to comprehensively evaluate the clinical significance and function prediction of gene mutations.

Inactive Publication Date: 2020-08-14
XIANGYA HOSPITAL CENT SOUTH UNIV
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Problems solved by technology

Despite significant advances in the development of human genomics data and tools, these tools are distributed across different online sites or databases and cannot comprehensively assess the clinical s

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  • Method for quickly annotating gene mutations of human beings
  • Method for quickly annotating gene mutations of human beings
  • Method for quickly annotating gene mutations of human beings

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Embodiment Construction

[0029] In order to make the object, technical solution and advantages of the present invention clearer, the present invention will be further described in detail below in conjunction with the accompanying drawings and embodiments. It should be understood that the specific embodiments described here are only used to explain the present invention, not to limit the present invention.

[0030] see Figure 1-3 , the present invention provides a technical solution: a method for rapid annotation of human gene variation, comprising the following steps:

[0031] S1: Simulate and generate all three potential variations of each base site in the human genome, and incorporate the genomic variation data in the population database to obtain a database that includes all possible gene variations in the human genome;

[0032] S2: Integrate the data of gene variation frequency in different populations, the harmfulness prediction value of gene variation of different tools, the data of clinical s...

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Abstract

The invention is applicable to the technical field of medical genetics, and provides a novel method for quickly annotating genes and mutations by constructing an information query database with complete annotations. The method comprises the following steps: (1) simulating to generate three potential mononucleotide variations of each base site of a human genome, and integrating the variations of different populations in a plurality of common databases to construct a database including all possible gene variations of the human genome; (2) further integrating common genome annotation informationon the basis, and establishing a genome annotation library including all variation information and annotation information of human beings into a whole and more than 9 billion pieces of information; and (3) quickly completing information extraction, pathogenicity prediction, visualization and other content in a query mode according to the database. According to the method, a complex gene annotationprocess is changed into a one-stop query process, so that the problems of non-uniform formats, complicated operation and low efficiency caused by matching different gene variations in multiple databases one by one are avoided.

Description

technical field [0001] The invention belongs to the technical field of medical genetics, and in particular relates to a new method for quickly annotating genes and variations by constructing a complete annotation and information query database. Background technique [0002] In the past decade, high-throughput sequencing technology has triggered a large-scale revolution in the detection of human genome variation. Whole-exome and whole-genome sequencing technologies are currently the most common tools for studying human single-gene genetic diseases and potential pathogenic variants and genes of complex diseases including cancer. However, only a small number of disease-associated gene variants in coding regions are currently known. In order to better explain human variation and identify pathogenic variants, more and more variation-level databases and tools have been developed, including mutation frequency, mutation harmfulness prediction, gene intolerance score to mutation, et...

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Application Information

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IPC IPC(8): G16B20/20G16B30/00G16B50/10
CPCG16B20/20G16B30/00G16B50/10
Inventor 李津臣李阔阔赵贵虎李滨
Owner XIANGYA HOSPITAL CENT SOUTH UNIV
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