Noninvasive prenatal biological information detection and analysis method

A biological information detection and analysis method technology, applied in the field of non-invasive prenatal biological information detection and analysis, can solve the problems of inaccurate regression results, incompatible judgment methods, slow bin method, etc., to ensure robustness and accuracy The effect of stability, sensitivity of Z value and accurate results

Active Publication Date: 2016-11-09
北京普康瑞仁医学检验所有限公司
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  • Abstract
  • Description
  • Claims
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AI Technical Summary

Problems solved by technology

[0006] However, the above detection methods also have their own limitations. The bin method is too slow in the analysis process. In the process of using the whole chromosome method for correction, if the least squares method is used for r

Method used

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  • Noninvasive prenatal biological information detection and analysis method
  • Noninvasive prenatal biological information detection and analysis method
  • Noninvasive prenatal biological information detection and analysis method

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0068] Embodiment 1 Construction of normal reference set

[0069] 1. Sample selection

[0070] A total of 150 pregnant women with gestational weeks greater than 10 weeks and no chromosomes in karyotype analysis were selected, and their peripheral blood was extracted for genome resequencing according to a high-throughput method.

[0071] 2. Data filtering

[0072] The off-machine data is subjected to quality control processing, and the off-machine 36SE reads are reads filtered to remove reads with empty connectors, reads containing N and low-quality reads, and retain the remaining reads.

[0073] 3. The number of reads is compared to locate the position of the sequence

[0074] Align the filtered reads with a short sequence alignment tool, and keep the reads on the non-repeated alignment and unique alignment.

[0075] 4. Statistical comparison position and GC content

[0076] Calculate the Uniq Mapped reads and GC content of each chromosome of each sample, calculate the tot...

Embodiment 2

[0083] Detection when the number of samples to be tested (same batch)≤10 in embodiment 2

[0084] In this embodiment, the number of samples to be tested = 5 is used as an example to illustrate the detection and analysis method of the present invention.

[0085] The samples were collected from the society and a hospital in Sichuan, and the results were verified in parallel by a proton platform approved by the state. Some samples were also followed up with fetuses after birth for confirmation.

[0086] 1. The peripheral blood of 5 pregnant women to be tested was collected for plasma separation, plasma cell-free DNA extraction, and library sequencing.

[0087] 2. Through comparison, filtering, statistics and homogenization, the following table lists the results of 5 blood samples after homogenization:

[0088]

[0089] 3. Use the calculated parameters of the normal reference set to correct and optimize the above NCR:

[0090] sample number

chr13(%)

chr18(%)...

Embodiment 30

[0102] Example 30

[0103] In this embodiment, the number of samples to be tested = 26 is used as an example to illustrate the detection and analysis method of the present invention.

[0104] 1. At the same time, the peripheral blood of 26 pregnant women to be tested was collected for plasma separation, plasma cell-free DNA extraction, and library sequencing.

[0105] 2. Through comparison, filtering, statistics and homogenization, the following table lists the results of 26 blood samples after homogenization:

[0106]

[0107]

[0108] 3. Calculate the corrected NCR mean value of the sample to be tested, and the corrected NCR mean value of SD, Slope and GC:

[0109]

[0110]

[0111] 4. Use the calculated parameters of the reference set to be tested to correct and optimize the above NCR.

[0112] sample number

chr13(%)

chr18(%)

chr21(%)

chr23(%)

chr24(%)

A16...

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Abstract

The invention relates to the field of medical detection and particularly discloses a noninvasive prenatal biological information detection and analysis method. For improving the accuracy of analyzing different quantities of to-be-detected samples, different detection and analysis methods are selected according to the different quantities of the to-be-detected samples, and different analysis policies are adopted for parameters obtained by the to-be-detected samples and parameters obtained by a normal reference set, so that the accuracy of analysis is improved to a greater extent. According to the method, the problem of inaccurate regression result caused by great influence of abnormal data on slope due to use of a least square method for regression in a process of correction by using a whole chromosome method in the prior art is well solved by adopting robust regression and CV regression, so that the robustness and accuracy of sample analysis are ensured. A set of analysis method for judging anomaly of sex chromosome by utilizing a ZZ value is originated; and the chromosome anomaly is judged by using the ZZ value method, so that related statistic judgment standards are better met, a result is more accurate, and the reliability of the method for judging the anomaly of the sex chromosome is enhanced.

Description

technical field [0001] The invention relates to the field of medical detection, in particular to a noninvasive prenatal biological information detection and analysis method. Background technique [0002] In 1997, Lo et al first discovered cell-free fetal DNA (cfDNA) in the maternal blood circulation, theoretically indicating that fetal cfDNA can be detected to detect whether the fetus has a disease. The first mature application of cfDNA to detect fetal disease is non-invasive fetal aneuploidy detection. At present, the detection of chromosomal aneuploidy mainly includes 21-trisomy syndrome (Down syndrome), 18-trisomy syndrome (Edward syndrome), 13-trisomy syndrome (Patau syndrome), special Turner syndrome (Turner syndrome), Klinefelter syndrome (Klinefelter syndrome), superfemale syndrome (XXX syndrome), supermale syndrome (XYY syndrome), and the incidence of trisomy 21 is about 1 / (600~800), the incidence of trisomy 18 is about 1 / 4000, and the incidence of trisomy 13 is ab...

Claims

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Application Information

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IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 郑洪坤郭强许德德汪德勇
Owner 北京普康瑞仁医学检验所有限公司
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