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

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...

AI Technical Summary

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 to apply to clinical routine detection only in the research and exploration stage

[0020] In summary, there is currently no technology that can effectively predict asymptomatic pregnancy tumors based on non-invasive prenatal genetic testing

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