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Biological information analysis method for human single-gene genetic disease detection

A genetic disease and biological information technology, applied in the field of biological information analysis for the detection of human single-gene genetic diseases, to achieve the effect of simple and clear analysis steps and comprehensive analysis content

Inactive Publication Date: 2020-03-27
GUANGZHOU GENE DENOVO BIOTECH
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  • Abstract
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  • Application Information

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Problems solved by technology

At present, there is no systematic method of using exome sequencing technology to analyze the detection data of human single gene genetic diseases

Method used

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  • Biological information analysis method for human single-gene genetic disease detection
  • Biological information analysis method for human single-gene genetic disease detection
  • Biological information analysis method for human single-gene genetic disease detection

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Embodiment 1

[0021] The exome sequencing data of human samples with renal hypoplasia (including 3 normal samples and 1 diseased sample) were analyzed. The reference genome was hg19, and the normal samples were: S1881-16, S1882-16 and S0405- 16. The diseased sample is: S0401-16. The family information is: S1881-16, S1882-16, S0405-16 and S0401-16. like figure 1 As shown, a bioinformatics analysis method for detecting human single-gene genetic diseases based on exon sequencing technology, the specific steps are as follows:

[0022] Step S1, screening of mutation deleterious sites: the specific screening steps are as follows:

[0023] 1. Filter the variant sites in the Thousand Genomes Database (frequency greater than 0.01 in the population);

[0024] 2. Filter the mutation sites whose frequency is greater than 0.01 in the database ExAC and ESP6500;

[0025] 3. Retain mutations in exonic or splicing regions;

[0026] 4. Filter synonymous mutations and retain non-synonymous mutations;

...

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Abstract

The invention provides a biological information analysis method for human single-gene genetic disease detection. The method comprises the following steps: S1, screening mutation harmful sites; S2, screening the sample relationship of human single-gene genetic disease detection; S3, performing gene function screening. According to the method, harmful mutation sites can be quickly and clearly screened from human exon sequencing data; the annotation analysis on the detected SNP, InDel and other genomic variations and an external database is carried out to determine the genomic position, variationfrequency, protein harmfulness, genotype heterozygosity, functional pathways and other information of the variations; the candidate genes are screened by using an autosomal invisible genetic model, an autosomal dominant genetic model, new mutation screening and common mutation gene screening, so the candidate genes are determined, GO and KEGG enrichment analysis is performed on the candidate genes, and powerful evidences are provided for determining the candidate genes related to diseases.

Description

technical field [0001] The invention relates to the technical field of biology, in particular to a biological information analysis method for detecting human single-gene genetic diseases based on exon sequencing technology. Background technique [0002] According to the tradition of domestic medical genetics, hereditary diseases can generally be divided into five categories: chromosomal diseases, monogenic diseases, mitochondrial genetic diseases, polygenic diseases and somatic genetic diseases. Among them, monogenic genetic disease is caused by single gene mutation, which is one of the main causes of birth defects. At present, more than 12,000 monogenic diseases (or traits) have been reported (www.omin.org), while 20,469 human protein-coding genes are counted on the Ensembl website (www.ensembl.org). In the study of causative gene mapping and cloning of single-gene genetic diseases, linkage analysis and positional cloning techniques used in the past two decades have been r...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/40G16B20/20G16B20/50G16B30/10G16B50/00
CPCG16B20/40G16B20/20G16B20/50G16B30/10G16B50/00
Inventor 夏昊强周煌凯高川陶勇罗玥程祖福邢燕曾川川
Owner GUANGZHOU GENE DENOVO BIOTECH
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