Analysis method and device for noninvasive prenatal gene detection sequencing data and storage medium

A technology for sequencing data and gene detection, applied in the field of non-invasive prenatal genetic detection sequencing data analysis, can solve the problems of difficult large-scale application popularization, high sequencing depth, high cost, and achieve the effect of expanded use

Pending Publication Date: 2022-04-01
BGI GENOMICS CO LTD
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Problems solved by technology

Option c, methylation detection, is expensive and difficult to popularize on a large scale
Option d, the cfDNA fragments of tumors have unique nucleosome-associated imprints, which usually require high sequencing depth, and are difficult

Method used

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  • Analysis method and device for noninvasive prenatal gene detection sequencing data and storage medium
  • Analysis method and device for noninvasive prenatal gene detection sequencing data and storage medium
  • Analysis method and device for noninvasive prenatal gene detection sequencing data and storage medium

Examples

Experimental program
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Embodiment

[0076] In this example, the NIPT sequencing data of 62 tumor samples and 434 normal samples were used. All samples were samples whose NIPT test results were MCA, that is, except for the Y chromosome and chromosome 19, the absolute value of Z scores of at least two chromosomes in other chromosomes > 3.0. The 62 cases of tumor samples and 434 cases of normal samples were divided into two groups, one was training set and the other was validation set. Among them, the training set contains 42 tumor samples and 294 normal samples, and the verification set contains 20 tumor samples and 140 normal samples. In this example, the M TOP5 Z scores of each sample are calculated, the threshold is obtained by using the training set, and the validation set is used to verify In this case, the analysis method of non-invasive prenatal genetic testing sequencing data, the accuracy of tumor risk assessment. details as follows:

[0077] (1) Obtain NIPT off-machine data of 62 cases of tumor samples...

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Abstract

The invention discloses a noninvasive antenatal gene detection sequencing data analysis method and device and a storage medium. The method comprises the following steps: acquiring an original sequencing result of a sample with two or more chromosome aneuploids from NIPT sequencing data, comparing the original sequencing result with a reference genome, and removing mismatched or repeated reads; and calculating Z values of other chromosomes except the Y chromosome and the No.19 chromosome according to an NIFTY algorithm, calculating an average value of the first five absolute values of the Z values, and if the average value is greater than a threshold value, judging that the to-be-detected object is a tumor high-risk population. The average value of the first five absolute values of the Z value of the chromosome of the MCA sample in NIPT detection is used for evaluating the pregnancy tumor condition for the first time, NIPT sequencing data is directly used in the analysis method, the analysis method is simple and convenient, extra cost except NIPT sequencing is avoided, and the use of NIPT in detection of the latent maternal cancer in the pregnancy period is further expanded.

Description

technical field [0001] The present application relates to the technical field of gene sequencing data analysis, in particular to an analysis method, device and storage medium for non-invasive prenatal genetic testing and sequencing data. Background technique [0002] The occurrence of pregnancy complicated with tumors is relatively rare, with an incidence rate of 0.07% to 0.1%. The more common tumor types include lymphoma, breast cancer, ovarian cancer, melanoma, leukemia, and colorectal cancer. Due to the concealment and latent nature of tumors and their occurrence during pregnancy, the common symptoms of tumors will be masked by the physiological changes during pregnancy. And because of the particularity of pregnancy, considering the inherent risks of fetal exposure to supplementary examinations, such as ionizing radiation, it is not easy for doctors to immediately check the cause of these symptoms; on the other hand, pregnancy interferes with the sensitivity and specific...

Claims

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Application Information

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IPC IPC(8): G16B20/50G16B25/20G16B30/10
Inventor 李佳周思鞠佳许雯秋苏茜赵立见
Owner BGI GENOMICS CO LTD
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