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Noninvasive prenatal gene testing and analyzing software

A technology of genetic detection and analysis software, applied in the fields of genomics, special data processing applications, instruments, etc., can solve the problems of installation difficulties, not considering the detection accuracy of uneven distribution of GC in human chromosomes, etc., and achieve easy maintenance and display results. Intuitive, easy-to-use effects

Inactive Publication Date: 2016-02-24
孔祥军
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Problems solved by technology

[0007] In order to overcome the difficulty in installing the existing non-invasive prenatal testing DNA test result analysis software, and did not take into account that the uneven distribution of human chromosome GC affects the detection accuracy, and can only analyze the ploidy information of three chromosomes 13, 18, and 21, this paper The purpose of the invention is to provide a non-invasive prenatal genetic testing and analysis software that can solve the above problems

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Examples

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Embodiment 1

[0028] Example 1 A kind of non-invasive prenatal genetic testing and analysis software

[0029] A non-invasive prenatal genetic detection and analysis software, including a data quality control module 1, a data comparison module 2, a non-invasive prenatal analysis module 3, a data statistics module 4 and a report generation module 5, each module is sequentially connected to transmit data. The data quality control module 1 is used for quality control of the peripheral blood gene detection data of pregnant women; the non-invasive prenatal analysis module 3 is used for comparative analysis and format conversion of the data after quality control; the data statistics module 4 is used for GC distribution. Correct and calculate the Z value of each chromosome; the data statistics module 4 is used to perform statistics on the Z values ​​transmitted from the non-invasive prenatal analysis module 3; the report generation module 5 generates the final report with the data transmitted from t...

Embodiment 2

[0032] Example 2 The use flow of a kind of non-invasive prenatal genetic testing and analysis software

[0033] The present invention also discloses the use process of the non-invasive prenatal gene detection and analysis software, specifically:

[0034] 1) Transmitting the obtained genetic testing data of the peripheral blood of pregnant women to the data quality control module 1;

[0035] 2) The data quality control module 1 uses the fastx algorithm to perform quality control on the obtained genetic testing data;

[0036] 3) The data comparison module 2 uses the bwa algorithm to compare the data transmitted by the data quality control module 1, and then uses the samtools and picardtools algorithms to convert the data format;

[0037] 4) The non-invasive prenatal analysis module 3 performs GC correction on the data in the corresponding format transmitted from the data comparison module 2, and calculates the Z value of each pair of chromosomes;

[0038] 5) The data statistic...

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Abstract

The invention discloses noninvasive prenatal gene testing and analyzing software. The software comprises a data quality control module, a data comparison module, a noninvasive prenatal analysis module, a data statistics module and a report generating module which are connected in sequence, and finally an analysis can be obtained, wherein the noninvasive prenatal analysis module comprises a GC correction module. The software is installed and used simply, is higher in accuracy compared with a conventional testing method and can analyze 23 pairs of karyotypes.

Description

technical field [0001] The invention belongs to the field of gene detection, in particular to a software for detecting pre-pregnancy fetal chromosomal diseases, and specifically relates to a non-invasive prenatal gene detection and analysis software. Background technique [0002] Chromosomal disease is the abbreviation of chromosomal genetic disease. It is mainly caused by abnormalities in the number, shape and structure of chromosomes, the main carrier of genetic material in cells. Usually divided into autosomal diseases and sex chromosome diseases two categories. Autosomal disorders are caused by autosomal abnormalities, and the clinical manifestations are congenital mental retardation, developmental delay and multiple deformities. Sex chromosomal disease is caused by sex chromosome abnormalities, and clinical manifestations include hypoplasia, mental retardation, and multiple deformities. 20-50% of spontaneous abortions are caused by chromosomal abnormalities; the inci...

Claims

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Application Information

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IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 戴寅飞孔祥军陶贞霞刘颖王艳霞李新萌王凤曹艳丽郭尧李萍郭文静
Owner 孔祥军
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