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A variation detection method and device based on genome assembly

A technology for genome assembly and mutation detection, applied in the field of genomics and bioinformatics, to achieve rapid and comprehensive detection results

Active Publication Date: 2018-10-26
深圳市华大智造软件技术有限公司
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Problems solved by technology

[0006] The invention provides a variation detection method and device based on genome assembly, which can effectively solve the detection problems of "dark areas" of variation detection, long sequence insertion and complex structural variation

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  • A variation detection method and device based on genome assembly
  • A variation detection method and device based on genome assembly
  • A variation detection method and device based on genome assembly

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[0015] According to one embodiment of the present invention, a variation detection method based on genome assembly is provided, referring to figure 1 , including the following steps:

[0016] S1: Obtain the sequencing read sequences derived from the gradient sequencing library.

[0017] The gradient sequencing library is usually obtained by breaking the genome sample from the target individual into fragments and preparing the corresponding library (library) according to the selected sequencing method. The optional sequencing method includes but is not limited to CG (Complete Genomics), Illumina / Solexa, ABI / SOLiD and Roche 454, according to the selected sequencing platform for single-end or paired-end sequencing library preparation. In one embodiment of the present invention, Illumina / Solexa's next-generation sequencer Genome Analyzer is used as a high-throughput sequencing method to realize a gradient sequencing library. The sequencing technology is a sequencing-by-synthesi...

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Abstract

The invention discloses a variation detection method and device assembled based on genomes. The method comprises following steps: obtaining sequencing and section-reading sequences from a gradient sequencing library; filtering the sequencing and section-reading sequences; splicing the filtered sequencing and section-reading sequence to long sequences with average length up to fourth pre-set value; comparing the spliced long sequences to a reference genome; and carrying out variation detection on sequence comparison results in order to obtain sequence variation. The variation detection method and device assembled based on genomes helps effectively solve the detection difficulty such as 'dark areas',long sequence insertion and complex designability for variation detection.

Description

technical field [0001] The invention relates to the technical fields of genomics and bioinformatics, in particular to a variation detection method and device based on genome assembly. Background technique [0002] With the completion of the International Human Genome Project and the sharp drop in the cost of DNA sequencing, the era of clinical personalized medicine with the help of DNA sequencing technology is approaching. Ideally, the desired DNA sequencing technology should be a technology that can read out the DNA in cells continuously and completely at one time. But in fact, even with such advanced technology today, it is still impossible. The current most advanced high-throughput sequencing platform can only pre-cut the complete DNA sequence in the cell into small pieces, and then perform it on the machine. Sequencing, and the current length of each read sequence can only reach a maximum of 250 base pairs (English abbreviation: bp), but currently the most widely used a...

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G06F19/18G06F19/22
Inventor 黄树嘉刘斯洋叶伟健饶俊华
Owner 深圳市华大智造软件技术有限公司
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