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DNA sequence processing method and apparatus

A DNA sequence and processing method technology, applied in the field of DNA sequence processing methods and equipment, can solve problems such as low efficiency of gene mutation detection, and achieve the effects of improving efficiency, shortening time, and improving detection accuracy

Active Publication Date: 2017-11-28
HUAWEI TECH CO LTD
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Problems solved by technology

[0007] The purpose of the present invention is to provide a DNA sequence processing method and equipment to solve the problem of low efficiency in the detection of genetic variation of DNA samples in the prior art

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  • DNA sequence processing method and apparatus
  • DNA sequence processing method and apparatus

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Embodiment Construction

[0025] In order to make it easier for those skilled in the art to understand the improvements made by the embodiments of the present invention to the prior art, the solutions in the prior art will be briefly introduced below.

[0026] The processing flow based on BWA-Picard-GATK is the best practice recognized in the industry to realize DNA sequencing and mutation detection. Among them, BWA (Burrows-Wheeler Aligner) is responsible for comparing and calculating the data sequence Read of each DNA according to the reference sequence , the Picard tool is responsible for several steps such as sorting, deduplication, and format conversion of the comparison result records, while GATK (The Genome Analysis Toolkit, Gene Analysis Toolkit) is responsible for variation detection, including local heavy alignment, base quality Calibration and variant calling are three steps. In specific operations, these sub-steps are executed sequentially by the user submitting through the command line.

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Abstract

A DNA sequence processing method and apparatus are to resolve the problem of inefficiency in performing mutation detection on DNA samples in the prior art. The DNA sequence processing method comprises the following steps for conducting parallel operations on each Read set respectively: obtaining a record of an intercomparison result of each Read relative to the reference sequence, wherein each Read in the Read set is compared and calculated according to a chromosome reference sequence; determining the chromosome regions in which each Read is located according to the intercomparison result record; merging the intercomparison result records of Reads in the same chromosome region to form an intermediate result file, wherein each chromosome region respectively corresponds to N intermediate result files after performing the above operations on the N Read sets; determining mutation point information of each chromosome region according to the target sequence file of each chromosome region, wherein the target sequence file of each chromosome region is determined according to the N intermediate result files which correspond to each chromosome region respectively.

Description

technical field [0001] The invention relates to the field of genetic engineering, in particular to a method and equipment for processing DNA sequences. Background technique [0002] Genes are functional fragments of DNA (Deoxyribonucleic acid, deoxyribonucleic acid) molecules that carry genetic information. Genes support the basic structure and performance of life, and DNA molecules are not necessarily genes. The existing technology already has a set of mature processing procedures for DNA samples, which usually consists of three steps: DNA sequencing, DNA sequence sequencing, gene localization and variation detection. [0003] Among them, DNA sequencing refers to the use of a DNA sequencer to extract the DNA of a biological sample and convert it into a data sequence Read that can be recognized by a computer. Specifically, the four bases in the DNA sequence, A, C, T, and G The linked base sequence is recognized, and then converted into a computer-recognizable string sequenc...

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Application Information

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IPC IPC(8): G06F19/22
CPCG16B30/00G16B30/20G16B30/10G16Z99/00C12N15/1089G16B40/00G16B20/00G16B25/00G16B50/00C12Q1/6827C12Q1/6869C40B40/08
Inventor 邓利群魏建生张军
Owner HUAWEI TECH CO LTD
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