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Gene variation interpretation method and device

A gene mutation and mutation technology, applied in the field of biomedicine, can solve problems such as large differences in manual interpretation, and achieve the effect of improving the efficiency of interpretation and solving large differences

Pending Publication Date: 2019-01-11
天津诺禾致源生物信息科技有限公司
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Problems solved by technology

[0004] The present invention aims to provide a method and device for gene variation interpretation to solve the technical problem of large differences in manual interpretation in the prior art

Method used

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  • Gene variation interpretation method and device

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Embodiment approach

[0025] According to a typical implementation of the present invention, S2 specifically includes: classifying mutation sites and combinations of mutation sites according to pathogenicity according to existing research or clinical data, so as to facilitate automatic interpretation by machines.

[0026] According to a typical embodiment of the present invention, the target region is the BRCA1 / 2 susceptibility gene, and the mutation sites and combinations of mutation sites are classified according to the strength of pathogenicity according to the existing research or clinical data, as shown in Table 1 :

[0027] Table 1

[0028]

[0029]

[0030] According to a typical embodiment of the present invention, S1 specifically includes: S11, preprocessing the sample to be tested and extracting DNA; S12, using probes to capture tumor-related genes according to the target region capture principle; S13, performing sequencing by a high-throughput method , to obtain the sequencing inf...

Embodiment 1

[0048] In the first part of this embodiment, the sample to be tested is a national reference product sample for BRCA gene mutation.

[0049] In the embodiment of the present invention, the main reagent supplies are commercially available, and the information is as follows in Table 3:

[0050] table 3

[0051]

[0052]

[0053] The main steps are as follows (the steps not described in detail in the present invention can be realized by conventional technical means in the art):

[0054] 1. Quantify using a fluorometer (Qubit), with a concentration of 3.8ng / ul and a volume of 130ul; use an ultrasonic breaker (Covaris) to fragment the sample so that the size of the DNA fragment is between 200 and 400bp, and then use Agarose gel electrophoresis was used to detect whether the fragment size met the requirement.

[0055] 2. Purify the fragmented sample with magnetic beads first, then perform end repair and 3' end adenylation. The system configuration is shown in Table 4 below. ...

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Abstract

The invention discloses a gene variation interpretation method and device. The method comprises the following steps: S1, acquiring sequencing information in an object region; S2, performing multi-standard pathogenicity evaluation on mutation sites in the object region, and determining clinical significance of the mutation site by integrating judgment results of different standards of the various mutation sites; and S3, determining the pathogenicity of the mutation sites in the object region according to the clinical significance of the mutation sites determined in the S2. According to the technical scheme of the invention, automatic interpretation of the machine can be realized, so that the technical problem that the artificial interpretation is great is solved, and the interpretation efficiency can be greatly improved.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to a method and device for interpreting gene variation. Background technique [0002] Patients with breast and ovarian cancer may carry BRCA1 / 2 susceptibility gene mutations, which can be identified by high-throughput sequencing of white blood cell samples, and it is very important to accurately interpret such mutations. At present, DNA is usually extracted from white blood cell samples, the whole exome of the human BRCA1 / 2 gene is captured, high-throughput sequencing is performed, and automatic interpretation is performed in combination with the interpretation standards of the China Institute for Food and Drug Control. [0003] At present, the commonly used interpretation method is manual interpretation, which is performed by scholars trained in genetics based on the 28 criteria proposed by the American College of Medical Genetics and Genomics (ACMG, American College of Medical...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6869C12Q1/6806
CPCC12Q1/6806C12Q1/6869
Inventor 李雷单光宇胡杨枝荣赵琳臧晚春成岗蒋智
Owner 天津诺禾致源生物信息科技有限公司
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