Data processing method and device for noninvasive gene detection

A data processing and genetic testing technology, applied in genomics, instrumentation, proteomics, etc., can solve the problem of low accuracy of non-invasive prenatal genetic testing, achieve the effect of reducing impact and improving accuracy

Pending Publication Date: 2022-03-11
成都凡迪医疗器械有限公司
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Problems solved by technology

[0004] Therefore, there is a technical problem of low accur...

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  • Data processing method and device for noninvasive gene detection
  • Data processing method and device for noninvasive gene detection
  • Data processing method and device for noninvasive gene detection

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[0057]In order to enable those skilled in the art to better understand the solution of the present application, the technical solution in the embodiment of the application will be clearly and completely described below in conjunction with the accompanying drawings in the embodiment of the application. Obviously, the described embodiment is only It is an embodiment of a part of the application, but not all of the embodiments. Based on the embodiments in this application, all other embodiments obtained by persons of ordinary skill in the art without creative efforts shall fall within the protection scope of this application.

[0058] It should be noted that the terms "first" and "second" in the specification and claims of the present application and the above drawings are used to distinguish similar objects, but not necessarily used to describe a specific sequence or sequence. It should be understood that the data so used are interchangeable under appropriate circumstances for t...

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Abstract

The invention discloses a data processing method and device for noninvasive gene detection. The method comprises the following steps: acquiring to-be-detected sample data when NIPT-PLUS is carried out for antenatal diagnosis, screening high-throughput sequencing data of normal pregnant women, constructing a reference database, and carrying out denoising processing on the to-be-detected sample data according to the reference database, so as to obtain a high-throughput sequencing result of the normal pregnant women; according to the method, the to-be-detected sample data subjected to de-noising processing is subjected to NET-PLUS Z value calculation to obtain the first result data, the first result data is compared with the preset theoretical threshold value, and the detection result data is output, so that the influence of objective factors on the result accuracy in the detection process is reduced, and the detection accuracy of the to-be-detected sample data is improved. The technical effect of improving the accuracy of noninvasive prenatal gene detection is achieved.

Description

technical field [0001] This application relates to the field of genetic diagnosis, in particular, to a data processing method and device for non-invasive genetic testing. Background technique [0002] Non-invasive prenatal testing (Non Invasive Prenatal Testing, NIPT) technology can realize the separation and detection of fetal cell-free DNA from the peripheral blood of pregnant women, and obtain the genetic information of the fetus from it, so as to detect whether the fetus has chromosomal diseases. [0003] NIPT-PLUS technology is based on next-generation sequencing technology, which can assess whether the fetus contains deletions and duplications of microchromosomal fragments by detecting the content of fetal free DNA in the peripheral blood of pregnant women. Currently, the NIPT-PLUS technology on the market is mainly used for screening specific detection intervals, and most of these specific intervals contain known pathogenic microdeletion and microduplication CNVs. Ho...

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Application Information

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IPC IPC(8): G16B20/40G16B20/30
CPCG16B20/40G16B20/30
Inventor 杨光辉马浩东
Owner 成都凡迪医疗器械有限公司
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