Statistical test method and related equipment for association between low-frequency variation and target disease
A technique for statistical testing and targeting, applied in the field of data analysis
Active Publication Date: 2022-02-25
温州谱希医学检验实验室有限公司
View PDF12 Cites 0 Cited by
- Summary
- Abstract
- Description
- Claims
- Application Information
AI Technical Summary
Problems solved by technology
[0003] At present, low-frequency variant association research is facing great challenges. Therefore, it is necessary to develop a method and equipment for statistical testing of the association between low-frequency variants and target diseases
Method used
the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View moreImage
Smart Image Click on the blue labels to locate them in the text.
Smart ImageViewing Examples
Examples
Experimental program
Comparison scheme
Effect test
Embodiment Construction
[0048] In order to enable those skilled in the art to better understand the solutions of the present invention, the technical solutions in the embodiments of the present invention will be clearly and completely described below in conjunction with the drawings in the embodiments of the present invention.
[0049] In some processes described in the specification and claims of the present invention and the above-mentioned drawings, a plurality of operations appearing in a specific order are contained, but it should be clearly understood that these operations may not be performed in the order in which they appear herein Execution or parallel execution, the serial numbers of the operations, such as 101, 102, etc., are only used to distinguish different operations, and the serial numbers themselves do not represent any execution order. Additionally, these processes can include more or fewer operations, and these operations can be performed sequentially or in parallel. It should be n...
the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More PUM
Login to View More Abstract
The invention discloses a statistical test method for association between low-frequency variation and target disease, electronic equipment and a computer-readable storage medium. The method includes: receiving a SNPs mutation information file; based on the SNPs mutation information file, acquiring first mutation sample data; receiving The sample category information file, the sample category information file includes the category label corresponding to each sample, and the category label indicates whether the corresponding sample exhibits the target disease; and based on the first mutation sample set corresponding to each gene and the sample category information file, obtain each A first test result corresponding to the gene, wherein the first test result indicates the significance of the difference in whether each gene expresses the target disease. The method in the present invention maps the mutated sample information corresponding to the mutation site to the gene or pathway, so as to realize the difference significance analysis on the low-frequency variation and disease correlation.
Description
technical field [0001] The present invention relates to the technical field of data analysis, and more specifically, to a statistical test method for the association between low-frequency variation and target disease, electronic equipment, and a computer-readable storage medium. Background technique [0002] Genome wide association study (GWAS) is widely used in genetic etiology studies of diseases and complex traits. However, traditional GWAS research does not cover low-frequency variation (generally speaking, when MAF<0.05 or MAF<0.01 at the mutation site, the mutation at the mutation site is low-frequency variation) (there is no or only weak linkage disequilibrium), which will cause disease" Loss of heritability" (missing heritability). In recent years, with the development of next-generation sequencing technology, many studies have found that low-frequency variation of genes is significantly related to genetic diseases with complex traits, and it is necessary to e...
Claims
the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More Application Information
Patent Timeline
Login to View More Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/50G16B20/30G16B50/30
CPCG16B20/50G16B20/30G16B50/30
Inventor 袁健闻旭冉李凯张吉邢世来
Owner 温州谱希医学检验实验室有限公司