Method for detecting microdeletion and microrepeat variation of embryonic genes, electronic equipment and computer storage medium

Abstract

The invention relates to a method for detecting microdeletion and microrepeat variation of embryonic genes, electronic equipment and a computer storage medium. The method comprises: breaking a probe region into a plurality of fragment probe regions of a predetermined length; obtaining first comparison result information of the sequencing sequence of a to-be-detected sample and a reference genome sequence; obtaining second comparison result information of a control sample sequencing sequence and the reference genome sequence; based on the first comparison result information and the second comparison result information, determining the sequencing depth relative change value of the to-be-detected sample and the control sample relative to the same fragment probe region; and based on the comparison between the sequencing depth relative change value and a predetermined value, determining a detection result about embryonic gene microdeletion microrepeat variation of the to-be-detected sample.The micro-deletion and micro-repetition detection method and device can accurately and efficiently detect micro-deletion and micro-repetition.

Description

technical field [0001] The present disclosure generally relates to biological information processing, and in particular, to methods, electronic devices, and computer storage media for detecting germline gene microdeletion and microduplication variations. Background technique [0002] Gene copy number variation (copy number variation, CNV) is the deletion or amplification of a certain scale of DNA fragments. Microdeletion / duplication (Microdel / dup for short) variation refers to the variation of small fragments with deletion or increase on the chromosome, which includes the deletion or addition of several exons of a gene, or the deletion or deletion of the entire gene. Increase. When the deletion or addition of several exons of a certain gene occurs in the germline of the human body, it is generally considered that the mutation is harmful and may cause an increased risk of cancer, and the probability of inheriting the mutation in the offspring is about 50%-100 %about. For e...

AI Technical Summary

Problems solved by technology

The former can accurately detect the deletion amplification of large fragments (such as 1Kb-3Mb), but the detection effect on micro-deletion and micro-duplication is low, or even impossible to detect, for example, micro-deletion and micro-duplication of 50bp-300bp cannot be detected

The latter needs to rely on imported MRC-HOLLAND kits for a series of operations such as hybridization, denaturation, ligation, PCR and capillary electrophoresis analysis. Therefore, each detection can only detect one gene, which takes a lot of time, for example, 5 days or so

[0004] To sum up, traditional methods for detecting gene copy number variation have the disadvantage of being unable to accurately and efficiently detect microdeletions and microduplications

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