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Genetic variation determination method and system and storage medium

A technique of genetic variation and variation, which is applied in the field of genetic variation determination methods, systems and storage media, can solve the problem of low consistency rate of genetic disease diagnosis conclusions, and achieve the effect of improving accuracy and determination speed

Active Publication Date: 2019-01-18
UNITED ELECTRONICS
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Problems solved by technology

Since the ACMG guidelines themselves cannot clearly specify the details and parameters of each evaluation standard, different data interpreters may have certain differences in specific operations, resulting in a low consistency rate of genetic disease diagnosis conclusions

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  • Genetic variation determination method and system and storage medium
  • Genetic variation determination method and system and storage medium
  • Genetic variation determination method and system and storage medium

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Embodiment Construction

[0026] Various exemplary embodiments of the present invention will now be described in detail with reference to the accompanying drawings. It should be noted that the relative arrangements of components and steps, numerical expressions and numerical values ​​set forth in these embodiments do not limit the scope of the present invention unless specifically stated otherwise.

[0027]At the same time, it should be understood that, for the convenience of description, the sizes of the various parts shown in the drawings are not drawn according to the actual proportional relationship.

[0028] The following description of at least one exemplary embodiment is merely illustrative in nature and in no way taken as limiting the invention, its application or uses.

[0029] Techniques, methods and devices known to those of ordinary skill in the relevant art may not be discussed in detail, but where appropriate, techniques, methods and devices should be considered part of the description. ...

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Abstract

The invention discloses a genetic variation determination method and system and a storage medium. The method comprises the steps: an automatic determination rule file is generated for annotating and classifying the genomic variation according to the data of multiple biomedical databases; and mutant gene annotation processing is performed on the variation detection file by using an annotation toolbased on the automatic determination rule file, the genomic variation in the variation detection file is classified by using a scoring tool based on the automatic determination rule file, the geneticvariation is reclassified by using the scoring tool based on the modified determination criterion, and the modified determination criterion is saved in the automatic determination rule file. Accordingto the genetic variation determination method and system and the storage medium, gene analysis and annotation can be more accurately and efficiently performed, the interpreter can be assisted to moreefficiently apply the evaluation criterion, automatic analysis on the massive variation site information can be realized and the accuracy and the determination speed of genetic variation determination can be improved.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a genetic variation determination method, system and storage medium. Background technique [0002] Gene sequencing is a new type of genetic testing technology, which can analyze and determine the full sequence of genes from blood or saliva, and predict the possibility of suffering from various diseases, individual behavioral characteristics and reasonable behavior, such as cancer or leukemia, sports talent, alcohol intake, etc. With the rapid increase in the number of samples of patients with genetic diseases and the number of detected genes, more and more mutations are detected by clinical molecular laboratories. The interpretation standards used by the personnel are different and the interpreters have different understandings of the 28 judgment rules of the ACMG guidelines, resulting in a low consistency rate of variation interpretation. [0003] In May 2015, ACMG and t...

Claims

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Application Information

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IPC IPC(8): G16B20/00G16B40/00
Inventor 侯晓帆胡菲菲李明壮蔡文君
Owner UNITED ELECTRONICS
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