Method for genome copy number variation based on target region capturing sequencing

A technology for target region capture and copy number variation, applied in the field of genetic engineering, can solve problems such as unguaranteed accuracy and inapplicability, and achieve the effect of improving efficiency, improving accuracy and sensitivity, and reducing the demand for computing resources

Active Publication Date: 2018-07-06
HUNAN YEARTH BIOTECHNOLOGICAL CO LTD
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Problems solved by technology

However, due to the large difference between the sequencing data captured in the target region and the whole genome sequencing data, the method suitable for whole genome sequencing to detect CNV is not suitable for capturing the sequencing data in the target region, and the accuracy is not guaranteed.

Method used

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  • Method for genome copy number variation based on target region capturing sequencing
  • Method for genome copy number variation based on target region capturing sequencing
  • Method for genome copy number variation based on target region capturing sequencing

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Embodiment 1

[0035] refer to Figure 1-2 , In this embodiment, 5 samples of normal people were collected to make initial data, and another sample was collected as a test sample.

[0036] The method for capturing and sequencing genome copy number variation based on the target region in this embodiment is performed according to the following steps:

[0037] (1) Divide the window of the target area to obtain the window file. The initial setting window length is about 60, and the coincidence degree is about 20%. The following is the intercepted part of the window table:

[0038]

[0039] (2) Use the miseq platform to sequence the fastq file, remove the fragments with a quality value below 10, and remove the adapter data of the fragments, use the BWA comparison software to compare the fasq file to the human reference genome (UCSC_hg19), after the comparison is obtained bam file, where the reference genome is downloaded from the UCSC website;

[0040] (3) Count the uniquely aligned fragment...

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Abstract

The invention belongs to the technical field of genetic engineering, and particularly relates to a method for genome copy number variation based on target region capturing sequencing. According to themethod, GC dynamic calibration is performed, a dynamic reference data set is established, thereby improving the accuracy and sensitivity of the detection of genome copy number variation, improving the efficiency, reducing the cost, and facilitating the promotion and application.

Description

technical field [0001] The invention belongs to the technical field of genetic engineering, and in particular relates to a method for capturing and sequencing genome copy number variation based on a target region. Background technique [0002] Copy number variation (CNV) is a common form of structural differences in the genome. Many studies have shown that CNV is closely related to the risk of various diseases, tumor prognosis, and targeted drugs. Reliable CNV detection results can provide important clinical basis. [0003] Currently, the main methods for CNV detection include: microarray comparative genetic hybridization (array-CGH), SNP typing chip, multiple ligation-dependent probe amplification (MLPA), next-generation sequencing (NGS), etc. However, the accuracy of array-CGH and SNP typing techniques is low, and MLPA cannot perform global analysis on the genome. Traditional NGS platforms for detecting CNV are generally developed based on whole-genome sequencing. To obt...

Claims

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Application Information

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IPC IPC(8): G06F19/12G06F19/18G06F19/20
CPCG16B5/00G16B20/00G16B25/00
Inventor 唐薇朱虎徐根明潘艺赵谦
Owner HUNAN YEARTH BIOTECHNOLOGICAL CO LTD
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