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Genome variation detection method and device

A mutation detection and detection device technology, applied in the field of biological information research, can solve the problems of low detection accuracy and low genome mutation detection efficiency.

Active Publication Date: 2018-06-05
HUAWEI TECH CO LTD
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Problems solved by technology

[0008] In order to solve the above problems, the present invention provides a genomic variation detection method and device to solve the problems of low efficiency and low detection accuracy in existing genomic variation detection

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  • Genome variation detection method and device
  • Genome variation detection method and device
  • Genome variation detection method and device

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Embodiment Construction

[0083] The basic principle of the embodiment of the present invention is: use partial assembly to create an iterative DeBruijn graph, traverse the iterative DeBruijn graph to obtain haploids, and then use the haploid alignment correction strategy realized by preset transformation rules to sequence the sequence covering each variation position Sequences are clustered into different classes, and sequencing sequences with the same variation type are aligned together to determine the variation type of the genome, avoiding the mistaken comparison of the same type of variation into different types of variation, thereby improving the detection results of genomic variation accuracy.

[0084] The technical solutions in the embodiments of the present invention will be clearly and completely described below in conjunction with the drawings in the embodiments of the present invention. Before describing this solution in detail, in order to facilitate the understanding of the technical solu...

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Abstract

The invention discloses a genome variation detection method and device, relates to the field of bioinformatics researches, and aims at solving the problem that existing genome variation detection is low in efficiency and low in precision. The method comprises the following steps of: determining a potential variation area of a genome, carrying out local assembling on a sequencing sequence falling in the potential variation area to create an iterative DeBruijn graph, and obtaining haploids according to the iterative DeBruijn graph; and comparing the sequencing sequence with all the haploids, comparing the optimum haploids corresponding to the sequencing sequence with a reference sequence corresponding to the potential variation area to obtain a group of comparison results, transforming two comparison results in the group of comparison results by adoption of a preset transformation rule, obtaining a correction alignment result between the sequencing sequence and the reference sequence corresponding to the potential variation area, and determining a variation type of the genome according to the correction alignment result between the sequencing sequence and the reference sequence corresponding to the potential variation area.

Description

technical field [0001] The embodiments of the present invention relate to the field of biological information research, and in particular to a genome variation detection method and detection device. Background technique [0002] As the cost of genome sequencing continues to decline, the genome sequencing sequences (read) generated by high-throughput sequencers (such as: Illumina Hiseq series sequencers) have shown explosive growth, especially the accumulation speed of human genome sequencing sequences is more obvious, How to obtain high-quality genome variation results from a large number of genome sequencing sequences has become a challenging task. [0003] At present, people usually use short sequence alignment software (such as: Burrows Wheeler Aligner, BWA) to align each sequencing sequence to a reference sequence (reference sequence), and obtain a double-sequence alignment result of each sequencing sequence and the reference sequence ( Including the detailed matching, ...

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Application Information

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IPC IPC(8): G06F19/22G06F19/18G06F19/24
CPCG16B20/00G16B30/00G16B40/00
Inventor 何俊张旸张洪波
Owner HUAWEI TECH CO LTD
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