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Gene variation detection method and device

A gene variation and detection method technology, applied in genomics, instrumentation, sequence analysis, etc., can solve the problem of inconvenient detection of gene variation and achieve accurate detection results

Active Publication Date: 2019-05-03
UNITED ELECTRONICS
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Problems solved by technology

[0003] The currently widely used 10-genotype model only considers the type of single-base variation, and the insertion-deletion variation is generally detected separately, which makes the gene variation detection of the existing model not easy enough

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  • Gene variation detection method and device
  • Gene variation detection method and device

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Embodiment Construction

[0043] In order to make the object, technical solution and advantages of the present invention clearer, the present invention will be described in further detail below in conjunction with specific embodiments and with reference to the accompanying drawings.

[0044] It should be noted that all expressions using "first" and "second" in the embodiments of the present invention are to distinguish two entities with the same name but different parameters or parameters that are not the same, see "first" and "second" It is only for the convenience of expression, and should not be construed as a limitation on the embodiments of the present invention, which will not be described one by one in the subsequent embodiments.

[0045] Based on the above purpose, the first aspect of the embodiments of the present invention provides an embodiment of a gene variation detection method capable of simultaneously detecting single base variation and insertion-deletion variation. Such as figure 1 Sh...

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Abstract

The invention discloses a gene variation detection method and device. The gene variation detection method comprises the following steps: making a statistics of comparison information of each locus from a gene comparison result; considering base variation and insertion and deletion variations, and creating a 16 genotype model; using the 16 genotype model to search candidate variation loci; and using a random forest to classify and screen the candidate variation loci, and outputting a screened candidate variation result. The gene variation detection method and the device provided by the invention can synchronously detect single base variation and insertion and deletion variations, and the efficiency is relatively high.

Description

technical field [0001] The invention relates to the technical field of data processing, in particular to a gene variation detection method and device. Background technique [0002] Genomic variation detection, here refers to finding bases or sequence fragments that are different from the reference genome from the comparison results of next-generation sequencing data, that is, single-base variation (SNV) and insertion-deletion variation (INDEL). [0003] The currently widely used 10-genotype model only considers the type of single-base variation, and the insertion-deletion variation is generally detected separately, which makes the detection of genetic variation in the existing model not easy. Contents of the invention [0004] In view of this, the object of the present invention is to propose a gene variation detection method and device capable of simultaneously detecting single base variation and insertion-deletion variation. [0005] Based on the above purpose, the gene...

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20
CPCG16B20/00G16B30/00
Inventor 何光铸王东辉蔡文君颜芹
Owner UNITED ELECTRONICS
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