Chromosome abnormality detection method and device, computer equipment and storage medium

A technology of chromosome abnormality and detection method, which is applied to the detection method of chromosome abnormality, computer equipment and storage media, and the field of devices, which can solve the problems of Y chromosome full chromosome detection and easy missed detection, so as to reduce detection cost, improve accuracy, The effect of improving detection efficiency

Active Publication Date: 2021-05-28
SUZHOU BASECARE MEDICAL DEVICE CO LTD
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Problems solved by technology

However, YCM detection based on PCR or capture technology cannot detect the en...

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  • Chromosome abnormality detection method and device, computer equipment and storage medium
  • Chromosome abnormality detection method and device, computer equipment and storage medium
  • Chromosome abnormality detection method and device, computer equipment and storage medium

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Embodiment Construction

[0068] In order to make the purpose, technical solution and advantages of the present application clearer, the present application will be further described in detail below in conjunction with the accompanying drawings and embodiments. It should be understood that the specific embodiments described here are only used to explain the present application, and are not intended to limit the present application.

[0069] The detection method of chromosomal abnormality provided by this application can be applied to such as figure 1 shown in the application environment. The application environment includes a terminal 110 . Wherein, the terminal 110 may be, but not limited to, various personal computers, notebook computers, smart phones, tablet computers and portable wearable devices. An intelligent detection model for chromosomal abnormality (hereinafter referred to as the intelligent detection model) and a copy number variation analysis algorithm may be pre-deployed in the terminal...

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Abstract

The invention relates to a chromosome abnormality detection method and device, computer equipment and a storage medium. The method comprises the following steps: acquiring a genome comparison result of a Y chromosome of a to-be-detected sample; for the AZF region, obtaining a detection result of the AZF region through a chromosome abnormality intelligent detection model according to a genome comparison result of the AZF region; for the non-AZF region, obtaining a detection result of the non-AZF region according to a genome comparison result of the non-AZF region through a preset copy number variation analysis algorithm; and generating a detection result of the Y chromosome according to the detection result of the AZF region and the detection result of the non-AZF region. According to the method, the chromosomes are detected and analyzed according to the whole genome comparison result, no additional experiment means is used, the detection efficiency of the chromosomes can be improved, and the detection cost is reduced; different regions of chromosomes are detected based on a machine learning model and a copy number variation analysis algorithm, so the coverage rate of detection and the accuracy of anomaly detection can be improved.

Description

technical field [0001] The present application relates to the technical field of gene detection, in particular to a detection method, device, computer equipment and storage medium for chromosomal abnormality. Background technique [0002] According to the statistics of the World Health Organization, about 10%-15% of couples of childbearing age in the world are infertile, and infertility caused by men accounts for about 30%-50%. The main causes of male infertility are spermatogenesis disorders and insemination disorders. Chromosomal abnormalities, gene defects, viral infections, and abnormal spermatogenic tissues and organs are the main causes of spermatogenic disorders. At present, 15%-30% of male infertility is mainly caused by genetic abnormalities. Klinefelter syndrome and Y chromosome microdeletion (YCM) are both very important genetic causes of male infertility. The incidence of YCM in healthy people is about 1 / 4000, but it is significantly higher in infertile men, w...

Claims

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Application Information

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IPC IPC(8): G16B30/10G16B20/10G16B20/20G16B20/40G16B40/00G16B45/00
CPCG16B30/10G16B20/10G16B20/20G16B20/40G16B40/00G16B45/00
Inventor 张军孔令印梁波
Owner SUZHOU BASECARE MEDICAL DEVICE CO LTD
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