Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Noninvasive prenatal bioinformatics detection system and method as well as application

A bioinformatics and detection method technology, applied in the field of non-invasive prenatal bioinformatics detection system, can solve the problem of inability to calculate the fetal concentration of female fetuses, and achieve the effect of reducing errors and complexity

Inactive Publication Date: 2018-08-10
北京爱普益医学检验中心有限公司
View PDF5 Cites 3 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The calculation results of the above different algorithms are slightly different. The current authoritative calculation method is based on the chrY chromosome method, but this method can only calculate the fetal concentration of male fetuses, but cannot calculate the fetal concentration of female fetuses.

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Noninvasive prenatal bioinformatics detection system and method as well as application
  • Noninvasive prenatal bioinformatics detection system and method as well as application
  • Noninvasive prenatal bioinformatics detection system and method as well as application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0077] Example 1 Non-invasive prenatal bioinformatics detection device

[0078] This embodiment provides a non-invasive prenatal bioinformatics detection device, which specifically includes the following components:

[0079] (1) Original data acquisition unit: used to perform whole-genome sequencing on the extracted cfDNA from the peripheral blood of pregnant women to obtain the original data;

[0080] (2) Raw data screening and delivery unit: used for automatic monitoring, to determine whether the original data has completely completed the sequencing process and obtained the original data, and whether the sample configuration file is ready, if the result is "yes", enter the original data quality control unit; if If the result is "No", return to the original data acquisition unit, and enter the original data quality control unit until the result of the automatic monitoring program is "Yes";

[0081] (3) Raw data quality control unit: used to split the raw data with the result of "Yes"...

Embodiment 2

[0086] This embodiment provides a non-invasive prenatal bioinformatics detection method, using the device in embodiment 1, the process is as follows Figure 3-4 As shown, including the following steps:

[0087] (1) Obtain the original data: extract the cfDNA sample of the pregnant woman's peripheral blood, and then use the existing nextseq500 sequencer to build the database and sequence the sample.

[0088] (2) Screening and delivery of the original data: Before the sequencing on the computer, the automatic monitoring program must be started in advance to monitor whether the original data is completely off the computer and whether the samplesheet file used for data classification already exists, whether the delivery task can be started, etc.

[0089] The flow of the automatic monitoring program is as follows: First, enter the Linux command line mode, run the Linux screen command to create an analysis window, and directly run the monitoring shell script in the newly created window to ...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention discloses a noninvasive prenatal bioinformatics detection system and method as well as application. The method comprises the following steps: 1) extracting cfDNA of peripheral blood of apregnant woman, and performing whole genome sequencing to obtain original offline data; 2) monitoring the original offline data by an automatic monitoring program, and automatically completing the delivery task of an analysis process; and 3) automatically completing the splitting task of the offline data, the quality control of fastq original data as well as the comparison and quality control ofreference genomes. The method disclosed by the invention can automatically complete the whole processes of data offline monitoring, automatic analysis and acquisition of detection results, and does not need personnel for operating so as to reduce the errors caused by human factors and reduce the complexity of data analysis, so that the method is more suitable for being put into production.

Description

Technical field [0001] The invention belongs to the field of bioinformatics, and relates to an automatic analysis method and its application, in particular to a non-invasive prenatal bioinformatics detection system and its method and application. Background technique [0002] At present, high-throughput sequencing can sequence dozens to hundreds of samples at a time, and produce hundreds of gigabytes of data at the same time. The large amount of data and the large number of samples put a severe test on the current data analysis; in addition, There are many high-throughput data analysis steps, human involvement is more, it is easy to cause errors, and it is not convenient to put into production. [0003] At present, the mainstream non-invasive prenatal testing process (NIPT) mainly uses the standard Z-score algorithm and the GC-corrected Z-score algorithm. Different algorithms have different detection effects on chr13, chr18 and chr21. The three-body detection effect is better, and...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/20G06F19/22
CPCG16B25/00G16B30/00
Inventor 冯冬申童王玲柴座林
Owner 北京爱普益医学检验中心有限公司
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com