Unlock instant, AI-driven research and patent intelligence for your innovation.

Method for screening candidate genes by integrating various neurodevelopmental diseases

A candidate gene and neural development technology, applied in the field of neurological diseases, can solve problems such as not considering tissue-specific expression level data

Active Publication Date: 2020-08-14
XIANGYA HOSPITAL CENT SOUTH UNIV
View PDF10 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] (3) Previous methods only considered the relationship between DNA level variation and disease, and did not consider tissue-specific expression level data, protein levels and other information
[0008]

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 more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Method for screening candidate genes by integrating various neurodevelopmental diseases
  • Method for screening candidate genes by integrating various neurodevelopmental diseases

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0034] 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.

[0035] see figure 1 , the present invention provides a technical solution: a method for integrating multiple neurodevelopmental diseases to screen candidate genes, comprising the following steps:

[0036] S1. Perform genomic functional annotation on the detected variants to classify the variants into loss-of-function variants, harmful missense variants, harmless missense variants, synonymous variants and non-coding region variants. Loss-of-function variants include frame-shift variants, splice site variants, stop variants, and stop codon deletion variants. Considering the mode of inheritance of v...

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

No PUM Login to View More

Abstract

The invention is applicable to the technical field of neurological diseases, and provides a method for screening candidate genes by integrating different types of variation data of various neurodevelopmental disease genes. According to the method, the number of candidate genes of a certain disease or a certain kind of disease is evaluated on the basis of a maximum likelihood estimation method, andthe candidate genes of the neurological diseases are identified on the basis of a Bayesian model method, an expected gene variation rate, a case variation load and other data. According to the method, various types of variation data of various neurodevelopmental diseases are integrated, the problem that the statistical effect of a single disease and a single variation is insufficient is solved, and a new method is provided for identifying new candidate genes and enhancing the gene credibility. The reliability degree of the method is verified through known genes, new candidate genes can be found according to the distribution condition of a disease queue variation spectrum, and meanwhile the method can be expanded to other major genetic diseases.

Description

technical field [0001] The invention belongs to the field of neurological diseases, and in particular relates to a method for screening candidate genes integrating multiple neurodevelopmental diseases. Background technique [0002] Neurodevelopmental diseases bring great suffering and burden to individuals and society due to their high morbidity and disability rates. These diseases are diverse and show a high degree of clinical heterogeneity, which brings great troubles to the diagnosis of the disease and the subsequent targeted treatment. At present, the diagnosis of the disease is mainly based on the phenotype described by the patient or family members and the behavior observed by the doctor. These clinical phenotype information are basically based on the results summarized by previous experts, and there is no unified biological index for judgment. [0003] The high heritability of neurodevelopmental diseases provides great opportunities to study the correlation between ...

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
no application Login to View More
IPC IPC(8): G16B30/00G16B40/00G16H50/20G16H50/70
CPCG16B30/00G16B40/00G16H50/20G16H50/70Y02A90/10
Inventor 李津臣李阔阔赵贵虎李滨
Owner XIANGYA HOSPITAL CENT SOUTH UNIV