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CNV testing device

A detection device and technology for sequencing data, applied in the fields of instrumentation, genomics, proteomics, etc., can solve the problems of easily masked fetal signals, inaccurate results judgment, false negatives, etc.

Active Publication Date: 2019-07-05
北京安诺优达医学检验实验室有限公司 +1
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AI Technical Summary

Problems solved by technology

[0004] Since the majority of signal in sequencing data is from the mother, fetal signal is easily masked when maternal CNV or placental mosaicism is present
On the other hand, when the experimental system is unstable, the interference of GC offset or system noise will easily lead to inaccurate judgment of the results, resulting in false positive or false negative results

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0151] Examples are given below to describe the present invention more specifically, but the present invention is not limited to these Examples.

[0152] In the following examples and comparative examples, the peripheral blood from a pregnant woman sent to a hospital in Beijing in January 2017 was used as the peripheral blood from a pregnant woman. The clinical examination results of the pregnant woman showed a low risk of CNV. showed that normal infants without CNV had been produced.

Embodiment 1

[0158] The above samples are sequenced to obtain the chromosome sequencing data of the sample to be tested and the chromosome sequencing data of the sample from the background library.

[0159] The sequencing data of Example 1 is cut into 100k length windows of equal length, and there is a 50k intersection between every two adjacent windows, and the statistics of each window include read, unique read (UR), Mapability, genomic GC and / or unique reads GC window parameters;

[0160] Perform CNV detection based on the number of reads, calculate the Z value based on each window obtained above, calculate the CNV probability, and use the CNV probability to estimate the fetal concentration, so as to judge whether the sample to be tested is suspected to be positive CNV, and exclude maternal CNV interference; the analysis results in this step are as follows image 3 The model 1 is shown in Figure 1. According to the results, the model 1 uses forward and backward continuous difference ...

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Abstract

The invention relates to a copy number variations testing device which comprises the components of a sequencing data acquiring module; a split window fragmenting module; a module for testing CNV basedon a reads number; a module which tests the CNV based on a unique reads number; and a model result gathering module.

Description

technical field [0001] The invention relates to a non-invasive CNV detection device and a method for non-invasive detection of CNV using the non-invasive CNV detection device. Background technique [0002] Gene copy number variations (hereinafter referred to as CNVs) are a type of clinically very important structural variation. Most microdeletions or microduplications are polymorphic, but some deletions and duplications are pathogenic or lethal. Therefore, identification of pathogenic and lethal CNVs before birth and early intervention can reduce neonatal defects. [0003] At this stage, non-invasive prenatal genetic testing (hereinafter referred to as NIPT screening) is based on the next-generation sequencing platform (NGS platform) for sequencing and analysis of maternal peripheral blood. Through analysis methods, system noise is filtered and fetal signal is increased, so as to realize the detection of chromosomal aneuploidy. Sex is tested. Noninvasive CNV is based on NI...

Claims

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Application Information

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IPC IPC(8): G16B20/20G16B30/00
CPCG16B30/00G16B20/10G16B20/20Y02A90/10
Inventor 王云峰杜洋玄兆伶李大为梁峻彬陈重建
Owner 北京安诺优达医学检验实验室有限公司
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