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A device for preimplantation genetic screening of embryos

A preimplantation and genetics technology, applied in the field of early prenatal screening, can solve problems such as weak anti-interference ability, poor parameter adaptability, and inability to qualitatively judge CNV

Active Publication Date: 2021-03-02
ZHEJIANG ANNOROAD BIO TECH CO LTD +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The advantage of this method is that it not only eliminates the influence of GC but also offsets the remaining unexplained data fluctuations with the background library. data
However, there are also the following disadvantages: it is too trivial to segment data with large fluctuations; it is impossible to make a qualitative judgment on CNV; the parameter adaptability is poor, and the parameter threshold needs to be adjusted for the data

Method used

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  • A device for preimplantation genetic screening of embryos
  • A device for preimplantation genetic screening of embryos
  • A device for preimplantation genetic screening of embryos

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0086] 1. The off-machine file is the sequencing data file obtained by the illumina hiseq4000 sequencer with the extension name bcl;

[0087] 2. After the bcl sequencing file is split, the batch data in the unit of library number is obtained, an example of the split result figure 2 shown. There are generally multiple libraries in a batch, and each library contains the sequencing information of the sample with detection.

[0088] 3. Connect the split data to the preprocessing module, divide the window, and obtain the sequence data with the window as the unit, one such as image 3 shown.

[0089] 4. Read the data of the above-mentioned document divided into windows, and the document data structure is as follows. Classify the window into the first type of window and the second type of window, represented by tag, which is a logical value consisting of 0 and 1.

[0090] Get rid of the GC preference, obtain the residual value of the model, represented by residD, the residD valu...

Embodiment 2

[0098] Sample 2 was detected by the same method as in Example 1. The detection results of karyotype and CNV were as follows: Figure 6 , Figure 7 shown. The sample data is centered around the diploid baseline, around 2.15. According to the conventional CNV screening method, the threshold baselines are usually set at the positions of the haploid baseline and the triploid baseline (around 2.23 and 2.05 in this embodiment). The threshold baseline in this embodiment is adapted to the sample detection results. Figure 7 There is an outlier window at the position of about 0 to 150 on the abscissa, which is judged as CNV in the conventional CNV screening method and this embodiment; there is an outlier window in the position of about 950 to 970 on the abscissa, which will be judged in the conventional CNV screening method It is CNV, which is judged to be a normal fluctuation area in this embodiment.

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Abstract

The invention relates to a genetic screening device before embryo implantation. The device comprises a data acquisition module, a sequence alignment module, a standard module, a classification module,a GC correcting module, a background database correcting module, a chromosome abnormality analysis module and a result reporting module.

Description

technical field [0001] The invention relates to the field of early prenatal screening, in particular to a device and method for preimplantation genetic screening of embryos. Background technique [0002] Preimplantation Genetic Screening (PGS) refers to the detection of chromosome number (karyotype) and structural abnormality (CNV) of early embryos before embryo implantation, and 23 pairs of embryos are detected at one time. The structure and number of chromosomes, an early prenatal screening method to analyze whether the embryo has genetic material abnormalities. Through preimplantation genetic screening, normal embryos can be selected for implantation in the uterus in order to obtain normal pregnancy, improve the clinical pregnancy rate of patients, and reduce multiple pregnancy. [0003] PGS genetic screening is a screening of all chromosomes of the embryo, which can check whether there is a deletion in the logarithm of the chromosome, whether the morphological structure...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B30/00G16B40/00
Inventor 申清瑞杜洋玄兆伶李大为梁峻彬陈重建
Owner ZHEJIANG ANNOROAD BIO TECH CO LTD