Method and device for detecting chromosome

A detection method and a technology of a detection device, which are applied in the field of genetic engineering and can solve problems such as the slow speed of chromosome detection

Inactive Publication Date: 2014-05-28
BEIJING NOVOGENE TECH CO LTD
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Problems solved by technology

[0005] The main purpose of the present invention is to provide a chromosome detection

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  • Method and device for detecting chromosome
  • Method and device for detecting chromosome

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Embodiment Construction

[0024] It should be noted that, in the case of no conflict, the embodiments in the present application and the features in the embodiments can be combined with each other. The present invention will be described in detail below with reference to the accompanying drawings and examples.

[0025] The embodiment of the present invention provides a method for detecting chromosomes. The method for detecting chromosomes provided by the embodiments of the present invention is described in detail below:

[0026] figure 1 It is a flowchart of a chromosome detection method according to an embodiment of the present invention, such as figure 1 As shown, the detection method mainly includes the following steps S102 to S108:

[0027] S102 (receiving step): receiving a reference sequence and a plurality of sequencing sequences, wherein the reference sequence is a human reference genome sequence, and the sequencing sequence is a genome sequence of a sample to be tested, generally a single-en...

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Abstract

The invention discloses a method and device for detecting a chromosome. The method for detecting the chromosome comprises a receiving step, a dividing step, a comparing step and a determining step. In the receiving step, a reference sequence and a plurality of sequencing sequences are received; in the dividing step, each sequencing sequence is divided into a plurality of sequencing subsequences with the fixed length being an n2 basic group by using an n1 basic group as the step length, and the reference sequence is divided into a plurality of reference subsequences with the fixed length being an n2 basic group by using an n3 basic group as the step length; in the comparing step, the sequencing subsequences of each sequencing sequence are compared with the reference subsequences of the reference sequence, so that a target sequencing sequence is determined; in the determining step, according to the corresponding relation of a plurality of sequencing subsequences of the target sequencing sequence and the reference subsequences of the reference sequence, the name of the chromosome corresponding to the target sequencing sequence is determined. By means of the method and device for detecting the chromosome, the problem that the detecting speed of the chromosome is low in the prior art is solved, and therefore the effects for lowering the time spending and increasing the detecting speed are achieved.

Description

technical field [0001] The invention relates to the field of genetic engineering, in particular to a chromosome detection method and device. Background technique [0002] For the fetal cell-free DNA in the maternal peripheral plasma, the most common detection method is based on the second-generation high-throughput sequencing technology. First, a small amount of peripheral blood is taken from the pregnant woman, and the cell-free DNA in the peripheral blood is extracted, and then multiple samples are generally mixed. Build the library, sequence the length of the single-end 50-base sequence, separate the sequencing data into each sample according to different sample markers (barcode), and then pass the third-party short sequence comparison software after quality control of each sample data ( Such as soapAligner or bwa) is compared with the human reference genome to obtain the coverage depth of the sequencing data on the target chromosome, that is, the chromosome dosage (chrom...

Claims

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Application Information

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IPC IPC(8): G06F19/18
Inventor 阮航潘凯王海龙李瑞强
Owner BEIJING NOVOGENE TECH CO LTD
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