Embryo chromosome microdeletion detection method, device and equipment and storage medium

Abstract

The invention relates to an embryo chromosome microdeletion detection method, device and equipment and a storage medium. According to the embryo chromosome microdeletion detection method, the genotype of the SNV site in the chromosome microdeletion region of the parent party and the parent party is analyzed, the SNV site capable of being used for typing is found, then the genotype of the SNV site is detected in the embryo to be detected, and the chromosome type of the embryo to be detected is analyzed according to the genotype of the SNV site. According to the detection method, the accuracy of analyzing whether the embryo chromosome is microdeletion or not is high, breakpoint detection does not need to be performed on the embryo, the chromosome type of the embryo can be analyzed only according to the genotype of the SNV site, and the operation is simple.

Description

technical field [0001] The invention relates to the field of bioinformatics, in particular to a method, device, equipment and storage medium for detecting microdeletion of embryonic chromosomes. Background technique [0002] Chromosomal microdeletions refer to deletions on chromosomes that are so small that they cannot be observed under a microscope. The length of the deletion is generally less than 5Mb, which may cause disease and may be passed on to offspring, but it is often missed because the deletion is too small. [0003] Currently, technologies that can detect chromosomal microdeletions include single-nucleotide microarray (single-nucleotide polymorphism array, SNP-array), microarray comparative genomic hybridization (array comparative genomic hybridization, array-CGH), low-depth whole-genome sequencing ( copy number variation sequencing, CNV-seq), these methods have the advantages of high resolution, high throughput, high sensitivity and high accuracy, although they ...

AI Technical Summary

Problems solved by technology

[0002] Chromosomal microdeletion refers to a deletion on a chromosome that is very small and cannot be observed under a microscope. The length of the deletion is generally less than 5Mb, which may cause disease and may be passed on to offspring, but it is often missed because the deletion is too small

[0003] At present, technologies that can detect chromosomal microdeletions include single-nucleotide microarray (single-nucleotide polymorphism array, SNP-array), microarray comparative genomic hybridization (array comparative genomic hybridization, array-CGH), low-depth whole-genome sequencing ( copy number variationsequencing, CNV-seq), these methods have the advantages of high resolution, high throughput, high sensitivity and high accuracy, although they can be used for the detection of chromosomal microdeletions, but when performing PGD detection for chromosomal microdeletions, It is difficult to accurately determine whether there is a microdeletion in the chromosome of the embryo when the deletion fragment is small and its resolution is limited, and breakpoint detection cannot be performed

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