Gender detection method, device, equipment and medium based on second-generation sequencing technology

By excluding high-incidence CNV mutation regions and sex chromosome PAR regions, and combining coverage depth ratio and X chromosome heterozygosity, the problem of inaccurate gender detection in second-generation sequencing technology was solved, and the stability and accuracy of gender detection were achieved.

CN119517158BActive Publication Date: 2025-10-03GUANGZHOU KINGMED CENTER FOR CLINICAL LABORATORY CO LTD +1
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Patent Information

Application Number
CN202411560626.8
Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
Filing Date
2024-11-04
Publication Date
2025-10-03
Estimated Expiration
2044-11-04

AI Technical Summary

Technical Problem

Existing gender detection methods are not accurate and reliable enough in the second-generation sequencing technology, especially under the influence of high-incidence CNV mutation areas and sex chromosome PAR regions, resulting in unstable gender detection results.

Method used

By excluding CNV mutation-prone regions and sex chromosome PAR regions from the effective detection areas of second-generation sequencing, the coverage depth ratio of sex chromosomes relative to autosomes is calculated, and combined with X chromosome heterozygosity, the gender detection result is determined.

Benefits of technology

The accuracy and stability of gender detection have been improved, and it can detect sex chromosome karyotype abnormalities, X chromosome heterozygosity loss, and Y chromosome loss, thus achieving reliable gender detection.

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Abstract

The present invention discloses a method, apparatus, device, and medium for gender detection based on second-generation sequencing technology. The method comprises: excluding CNV mutation-prone regions and sex chromosome PAR regions from valid detection regions of second-generation sequencing to obtain a high-efficiency gender detection region; calculating the coverage depth ratio of sex chromosomes to autosomes in the high-efficiency gender detection region based on a sample sequencing data comparison file, and obtaining the sex chromosome copy number based on the coverage depth ratio; determining X chromosome heterozygosity in the high-efficiency gender detection region based on a sample sequencing data variation file; and obtaining a gender detection result based on the sex chromosome copy number and X chromosome heterozygosity based on a configuration file. Reliable and stable gender detection is achieved based on second-generation sequencing technology.
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