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Gene variation identification method, device and storage medium

A technology of gene mutation and identification method, applied in the computer field, can solve problems such as noise and error

Active Publication Date: 2019-07-09
BEIJING SENSETIME TECH DEV CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Although next-generation sequencing technology can generate larger raw gene sequencing data, it will also generate more noise and errors

Method used

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  • Gene variation identification method, device and storage medium
  • Gene variation identification method, device and storage medium
  • Gene variation identification method, device and storage medium

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Embodiment Construction

[0088] Various exemplary embodiments, features, and aspects of the present disclosure will be described in detail below with reference to the accompanying drawings. The same reference numbers in the figures indicate functionally identical or similar elements. While various aspects of the embodiments are shown in drawings, the drawings are not necessarily drawn to scale unless specifically indicated.

[0089] The word "exemplary" is used exclusively herein to mean "serving as an example, embodiment, or illustration." Any embodiment described herein as "exemplary" is not necessarily to be construed as superior or better than other embodiments.

[0090] In addition, in order to better illustrate the present disclosure, numerous specific details are given in the following specific implementation manners. It will be understood by those skilled in the art that the present disclosure may be practiced without some of the specific details. In some instances, methods, means, componen...

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Abstract

The invention relates to a gene variation identification method, a device and a storage medium, wherein the method comprises the steps of acquiring at least one gene sequencing read segment which corresponds with a gene variation candidate site; according to the attribute information of at least one gene sequence read segment, determining a sequence characteristic and a non-sequence characteristicof a gene variation candidate site, wherein the sequence characteristic is a characteristic related with the position of the site; and based on the sequence characteristic and the non-sequence characteristic, identifying the gene variation of the gene variation candidate site. According to the gene variation identification method, the sequence characteristic and the non-sequence characteristic ofthe gene can be combined, thereby more comprehensively analyzing the characteristic of the gene variation site and improving accuracy in gene variation identification.

Description

technical field [0001] The present disclosure relates to the field of computer technology, and in particular to a gene variation identification method, device and storage medium. Background technique [0002] With the development of biotechnology, the sequence of human genes can be determined by gene sequencing technology, and the analysis of gene sequences can be used as the basis for further gene research and transformation. At present, compared with the first-generation sequencing technology, the next-generation sequencing technology of genes has greatly improved the efficiency of gene sequencing, reduced the cost of gene sequencing, and maintained the accuracy of gene sequencing. If the first-generation sequencing technology completes the sequencing of a human genome, it may take 3 years, but using the second-generation sequencing technology can shorten the time to only 1 week. [0003] Although next-generation sequencing technology can generate larger raw gene sequenci...

Claims

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Application Information

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IPC IPC(8): G16B30/00G16B20/20
CPCG16B20/20G16B30/00C12Q1/68G16B40/20G06N3/08G16B30/10G06N3/126G16B5/00C12N15/1082C40B40/08C12N15/1093
Inventor 胡志强
Owner BEIJING SENSETIME TECH DEV CO LTD