Chromosome abnormality detection device

A chromosomal abnormality and detection device technology, applied in the field of chromosomal abnormality detection devices, can solve the problems of failure of test-tube babies, ineffective removal, unexplained spontaneous abortion, etc., and achieves the effects of improving uniformity and reducing data noise

Active Publication Date: 2018-07-10
CAPITALBIO GENOMICS
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Problems solved by technology

[0002] In recent years, with the increasing number of patients receiving assisted reproduction, a large number of clinical findings have shown that in the process of assisted reproduction, embryos of some high-risk couples are prone to repeated implantation failures or unexplained spontaneous abortions. The overall live birth rate of IVF Less than 30%, and studies ...

Method used

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Embodiment 1

[0060] Applying a chromosomal abnormality detection device provided by the present invention to the chromosomal abnormality detection technology based on single cell amplification specifically includes the following processing steps, and the flow chart is as follows: figure 1 shown.

[0061] 1. Obtain whole genome sequencing data

[0062] A batch of cell lines with known karyotypes were purchased from Coriell Company. A total of 25 samples participated in this test, and the sample numbers were T1-T25, including: 2 negative samples; 3 samples of sex chromosome aneuploidy; 7 samples Autosomal aneuploidy sample; 1 sample of sex chromosome microduplication or microdeletion; 12 samples of autosomal microduplication or microdeletion; the above samples were subjected to single-cell whole-genome amplification, library construction and high-throughput sequencing to obtain Read long fragments.

[0063] 2. Compare

[0064] Compare the obtained read length fragments with the human geno...

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Abstract

The invention discloses a chromosome abnormality detection device. Aiming at solving the problems that conventional chromosome abnormality detection and analysis are based on a reads number statistical model, can only remove duplicate reads compared in the same initial position of a genome but cannot remove mutually overlapped reads with different initial positions, the device can effectively remove the duplicate reads and overlapping areas caused by amplification preference of a whole genome of a single cell by introduction of a sequence coverage statistical model, data uniformity is remarkably improved, then data noise is reduced, detection rate of positive specimens is increased, and false positive rate is reduced.

Description

technical field [0001] The invention relates to data processing technology, in particular to a chromosome abnormality detection device. Background technique [0002] In recent years, with the increasing number of patients receiving assisted reproduction, a large number of clinical findings have shown that in the process of assisted reproduction, embryos of some high-risk couples are prone to repeated implantation failures or unexplained spontaneous abortions. The overall live birth rate of IVF Less than 30%, and studies have found that chromosomal abnormalities in embryos are the main reason for the failure of IVF. Therefore, preimplantation chromosomal abnormality detection of embryos, and then selection of healthy embryos for implantation, can significantly improve the pregnancy rate and live birth rate of IVF. [0003] Preimplantation chromosomal abnormality detection requires single-cell amplification of trophectoderm cells or blastomeres of blastocyst-stage embryos to ...

Claims

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Application Information

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IPC IPC(8): G06F19/22G06F19/24
CPCG16B30/00G16B40/00
Inventor 糜庆丰彭春方张娟赵宇陈样宜饶兴蔷罗东红黄铨飞刘丽菲
Owner CAPITALBIO GENOMICS
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