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Genome variation detection method, device and terminal

A variation detection and genome technology, applied in the field of bioinformatics, can solve problems such as inaccurate results of genome variation detection, and achieve the effect of improving accuracy and aligning accurately

Active Publication Date: 2022-03-29
HUAWEI TECH CO LTD
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  • Claims
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Problems solved by technology

[0005] This application provides a genome variation detection method, device and terminal to solve the problem of inaccurate genome variation detection results in the prior art

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  • Genome variation detection method, device and terminal
  • Genome variation detection method, device and terminal
  • Genome variation detection method, device and terminal

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Embodiment Construction

[0059] In order to enable those skilled in the art to better understand the solution of the present application, the technical solution in the embodiment of the application will be clearly and completely described below in conjunction with the accompanying drawings in the embodiment of the application. Obviously, the described embodiment is only It is a part of the embodiments of this application, not all of them. Based on the embodiments in this application, all other embodiments obtained by persons of ordinary skill in the art without making creative efforts belong to the scope of protection of this application.

[0060] see Figure 1A , which is a schematic diagram of the double-sequence alignment state of a sequencing sequence and a reference sequence provided in the embodiment of this application, see Figure 1B , for the embodiment of this application will be Figure 1A Schematic diagram of the alignment status of the alignment correction of the sequencing sequences in ...

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Abstract

A genome variation detection method, device, and terminal, wherein the genome variation detection method includes: performing a double-sequence comparison of multiple sequencing sequences of the genome with a reference sequence to obtain a double-sequence comparison result (201); according to the According to the pairwise sequence comparison results, determine the potential variable region of the genome (202); according to the potential variable region, extract sequenced sequence fragments from all sequencing sequences (203); according to the potential variable region, extract extract the reference sequence fragment (204); perform multiple sequence alignment on the reference sequence fragment and all sequencing sequence fragments, and obtain the multiple sequence alignment result (205); according to the multiple sequence alignment result, determine the genome The variation detection results of (206). By performing multiple sequence comparisons on the reference sequence fragments and all sequencing sequence fragments, sequencing sequence fragments with the same variation type can be aligned together, thereby improving the accuracy of genomic variation detection results.

Description

technical field [0001] The present application relates to the technical field of bioinformatics, in particular to a genome variation detection method, device and terminal. Background technique [0002] At the molecular level, genomic variation refers to changes in the composition or sequence of base pairs in the genome, mainly including SNP (Single Nucleotide Polymorphism, single nucleotide polymorphism) and indel (shortInsertion / Deletion, insertion or deletion of small fragments). delete). As the cost of genome sequencing continues to decline, the genome sequencing data produced by high-throughput sequencers has shown explosive growth. However, how to obtain high-quality genomic variation detection results from genome sequencing data is still a challenging task. work. [0003] Traditional genomic variation detection usually uses the reference sequence of the genome as a benchmark, and performs double-sequence comparisons between multiple sequencing sequences of the genome...

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Application Information

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IPC IPC(8): G16B20/20G16B30/10
CPCG16Z99/00
Inventor 何俊张旸张洪波
Owner HUAWEI TECH CO LTD
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