Gene variation pathogenic grade determination method and device

A technology for genetic variation and determination methods, applied in genomics, special data processing applications, instruments, etc., can solve the problems of costing a lot of manpower and material resources, low accuracy, etc., and achieve the effect of accurate division, saving time and manpower

Inactive Publication Date: 2017-07-14
为朔医学数据科技(北京)有限公司
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[0005] In view of this, the purpose of the embodiments of the present invention is to provide a method and device for determining the pathogenicity level of gene mutations, so as to solve t

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  • Gene variation pathogenic grade determination method and device
  • Gene variation pathogenic grade determination method and device
  • Gene variation pathogenic grade determination method and device

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[0054] In order to make the objectives, technical solutions and advantages of the embodiments of the present invention clearer, the technical solutions in the embodiments of the present invention will be described clearly and completely in conjunction with the accompanying drawings in the embodiments of the present invention. Obviously, the described embodiments are only It is a part of the embodiments of the present invention, not all the embodiments. The components of the embodiments of the present invention generally described and illustrated in the drawings herein may be arranged and designed in various different configurations. Therefore, the following detailed description of the embodiments of the present invention provided in the accompanying drawings is not intended to limit the scope of the claimed invention, but merely represents selected embodiments of the present invention. Based on the embodiments of the present invention, all other embodiments obtained by those sk...

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Abstract

The invention provides a gene variation pathogenic grade determination method and device. The method comprises the steps that structured single-gene inheritance disease research data is acquired; a first corresponding relation between the structured single-gene inheritance disease research data and a strength grade of the structured single-gene inheritance disease research data is established; the strength grade of the structured single-gene inheritance disease research data corresponding to to-be-analyzed gene variation is determined; and the strength grade is matched with a pre-established gene variation pathogenic grade decision-making tree model to determine the pathogenic grade of the to-be-analyzed gene variation. According to the embodiment, automatic division of the pathogenic grade of gene variation on a single-gene inheritance disease is realized, a large amount of time and manpower are saved, and division is accurate.

Description

technical field [0001] The invention relates to the technical fields of data analysis and biological information, in particular to a method and device for determining the pathogenicity level of gene mutations. Background technique [0002] Single-gene genetic diseases refer to genetic diseases controlled by a pair of alleles. There are more than 6,600 types, and the number is increasing at a rate of 10-50 each year. The more common ones are red-green color blindness, hemophilia, albinism, etc. At present, single-gene genetic diseases have posed a great threat to human health. Therefore, in some cases, it is necessary to detect single-gene genetic diseases, and when detecting single-gene genetic diseases, it is necessary to use the single-gene genetic disease database . [0003] Existing monogenic genetic disease databases include Human Mendelian Inheritance (Online Mendelian Inheritance in Man, OMIM), Human Gene Mutation Database (The Human Gene Mutation Database, HGMD), et...

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Application Information

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IPC IPC(8): G06F19/18G06F19/24
CPCG16B40/00G16B20/00
Inventor 不公告发明人
Owner 为朔医学数据科技(北京)有限公司
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