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Family three-sample high-throughput sequencing risk grouping and screening method and system

A high-risk, high-throughput technology, applied in the field of data analysis, can solve the problems of manual analysis difficulties, the inability to take into account the advantages of the three-sample family, and the lack of a method for implementing the three-risk grouping system of the family, so as to improve analysis efficiency, highlight the advantages of detection, Realize the effect of data

Pending Publication Date: 2022-03-29
TIANJIN KINGMED CENT FOR CLINICAL CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The data in the annotation table of the three samples of the family were merged according to each variant site, and the combined data volume was about 80,000. It is very difficult to perform manual analysis with a single logical screening, and the screening and grouping of a single sample cannot take into account the three samples of the family. The advantages
At present, there is no systematic implementation method for the risk grouping of three samples in a family

Method used

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  • Family three-sample high-throughput sequencing risk grouping and screening method and system
  • Family three-sample high-throughput sequencing risk grouping and screening method and system
  • Family three-sample high-throughput sequencing risk grouping and screening method and system

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Experimental program
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specific Embodiment

[0242] An example of the whole exome sequencing data in our laboratory, the number of detected mutation sites is 59559, the first line of the bio-letter note is the identification and description of the header as shown in Table 1 below:

[0243]

[0244] Table 1

[0245] The screening results are shown in Table 2 below:

[0246]

[0247] Table 2

[0248] The following is the three-sample control screening method of the same family, which is different from the scheme of the present invention, and the single-sample screening is as follows:

[0249] The screening results are shown in Table 3 below:

[0250]

[0251] table 3

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Abstract

The invention discloses a family three-sample high-throughput sequencing risk grouping screening method. The method comprises the following steps: S1, selecting markers for pathogenic high-risk gene variation of family three samples; s2, screening and marking gene variation of suspected new mutation of the pre-evidence sample; s3, selecting markers for pathogenicity medium and high risk autosomal dominant genetic gene variation; s4, screening and marking the pathogenicity medium-high-risk autosomal recessive inheritance gene variation; s5, screening markers for high-risk sex-linked heredity gene variation in pathogenicity; s6, screening and marking the gene variation with the suspected prenatal risk; the invention further discloses a family three-sample high-throughput sequencing risk grouping and screening system, rapid analysis of data is achieved, the analysis efficiency is greatly improved, and the accuracy is improved.

Description

technical field [0001] The present invention relates to the technical field of data analysis, in particular to a risk grouping and screening method and system for high-throughput sequencing of three samples in a family. Background technique [0002] Genetic diseases refer to diseases that are completely or partially determined by genetic factors and caused by changes in genetic material, and are diseases that are controlled by pathogenic genes. There are many ways to find the genetic cause of genetic diseases, such as generation sequencing (Sanger sequencing), chromosome microarray analysis (Chromosome Microarray Analysis), high-throughput sequencing technology (High-Throughput Sequencing), etc. Among them, high-throughput sequencing technology, also known as next-generation sequencing technology (Next-Generation Sequencing), is an important technical means currently used to find genetic disease-causing genes, and whole exome sequencing is the current high-throughput sequenc...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/20
CPCG16B20/20
Inventor 刘洪洲李冬梅喻长顺李恪陈建春贾晓冬李行汲珊珊
Owner TIANJIN KINGMED CENT FOR CLINICAL CO LTD