Kit and device for detecting aneuploidy of chromosomes

A technology of aneuploidy and chromosome, applied in the field of biomedicine, can solve problems such as low error rate and misjudgment

Active Publication Date: 2015-07-22
ANNOROAD GENE TECH BEIJING +3
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] Although the above method has achieved an extremely low error rate, there is still a risk of misjudgment

Method used

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  • Kit and device for detecting aneuploidy of chromosomes
  • Kit and device for detecting aneuploidy of chromosomes
  • Kit and device for detecting aneuploidy of chromosomes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0070] In order to test the correcting effect of the correction of abnormal copy number fragments of pregnant women on the detection of chromosomal aneuploidy, this embodiment generates a group of simulated data of pregnant women based on Poisson distribution. In the simulated data, 13, Chromosomes 18 and 21 were added with quantitative copy number abnormal fragments, and the size of copy number abnormal fragments ranged from 0.5Mb to 5Mb with a step size of 0.25Mb. Then, three different concentrations of normal human DNA (5%, 10%, 15%) were mixed into the simulated data containing fragments with copy number abnormalities. The whole process is used to simulate the impact of different copy number abnormal fragment sizes on the coverage of chromosomes 13, 18 and 21 under different fetal concentrations, and to test the correction effect of pregnant women's copy number abnormal fragments on chromosome aneuploidy detection . All calculations were performed under the assumption tha...

Embodiment 2

[0075] Utilize the device for detecting chromosomal aneuploidy of the present invention to detect fetal aneuploidy in 6615 cases of pregnant women to be tested, the device comprising:

[0076] Sequencing data detection module: used to perform high-throughput sequencing on the peripheral blood cell-free DNA of 6615 pregnant women to be tested, so as to obtain the sequencing data including all chromosomes of each pregnant woman to be tested;

[0077] The first coverage calculation module: used to calculate the coverage of all chromosomes in the sequencing data of each pregnant woman to be tested in the form of divided windows, so as to obtain the coverage before correction of each chromosome of each pregnant woman to be tested;

[0078] Z CNV Value calculation module: Z for the number of single sequences in each window for each pregnant woman to be tested CNV value is calculated;

[0079] Copy number abnormal fragment query module: used to query the fragments above 300Kb in the ...

Embodiment 3

[0091] Utilize the device for detecting chromosomal aneuploidy of the present invention to detect the above-mentioned sample (sample EK01875, the age of the pregnant woman is 29 years old, and the gestational week is about 18w). The device includes:

[0092] Sequencing data detection module: used for high-throughput sequencing of peripheral blood free DNA of pregnant women to obtain sequencing data including all chromosomes;

[0093] The first coverage calculation module: used to calculate the coverage of all chromosomes in the sequencing data in the form of divided windows, so as to obtain the coverage of each chromosome before correction;

[0094] Z CNV Value calculation module: Z for the number of single sequences of pregnant women to be tested in each window CNV value is calculated;

[0095] Copy number abnormal fragment query module: used to query fragments over 300Kb in the sequencing data, and among the fragments above 300Kb, the Z of chromosome fragments in more than...

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Abstract

The invention discloses a kit and device for detecting aneuploidy of chromosomes. The device comprises a sequenced data detection module, a first coverage calculation module, a ZCNV value calculation module, a copy number variation fragment query module, a copy number variation fragment determination module, a first alpha calculation module, a second alpha calculation module, a correction module, a second coverage calculation module, a Zaneu value judgment module and a chromosome aneuploidy confirmation module, wherein the sequenced data detection module is used for obtaining sequenced data for all the chromosomes; the first coverage calculation module is used for obtaining uncorrected coverage of each chromosome; the ZCNV value calculation module is used for calculating a ZCNV value of a single sequence number of each window; the copy number variation fragment query module is used for querying fragments, of which the ZCNV value of over 80% of windows is greater than or equal to 4 or smaller than or equal to -4, with over 300Kb in the sequenced data; the copy number variation fragment determination module is used for determining copy number variation fragments of a pregnant woman to be detected; the first alpha calculation module is used for calculating a parameter alpha according to a formula (1); the second alpha calculation module is used for calculating the parameter alpha according to a formula (2); the correction module is used for correcting the uncorrected coverage so as to obtain corrected coverage; the second coverage calculation module is used for calculating a Zaneu value of each chromosome; the Zaneu value judgment module is used for judging whether the Zaneu value is not smaller than 3 or not; the chromosome aneuploidy confirmation module is used for determining that the chromosomes have aneuploidy. The detection is more accurate.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a kit and a device for detecting chromosomal aneuploidy. Background technique [0002] It has been nearly 20 years since Lo found cell-free fetal DNA (cff-DNA) in 1997, and it was this discovery that provided the possibility for many non-invasive prenatal testing methods (NIPT). The non-invasive prenatal detection method mainly has the following two advantages: First, NIPT does not need to bear any risk of miscarriage, while clinical karyotype analysis through invasive methods such as amniocentesis and umbilical puncture will bring about 1 / 2 200% of the risk of miscarriage, and some studies have shown that premature umbilical puncture may also cause fetal position tilt; on the other hand: NIPT can be detected as early as 8 weeks of gestation, and the risk judgment can be given earlier, reducing the risk of induction of labor for pregnant women. risks of. [0003] It is these advantag...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12M1/34
CPCC12Q1/6869C12Q2537/16C12Q2537/165
Inventor 陈重建梁峻彬玄兆伶李大为
Owner ANNOROAD GENE TECH BEIJING
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