Method for predicting copy number of gene to be detected, computing device and storage medium

Abstract

The invention relates to a method for predicting the copy number of a gene to be detected, computing equipment and a storage medium. The method comprises the following steps: obtaining sequencing sequence data of a to-be-detected sample, wherein the sequencing sequence data is a third-generation sequencing sequence about a to-be-detected gene obtained by a third-generation sequencing technology; based on the obtained sequencing sequence data, determining the haplotype number and the sequencing depth of the to-be-detected gene; and based on the determined haplotype number and the sequencing depth, determining a prediction result of the copy number of the to-be-detected gene of the to-be-detected sample. According to the method, the gene copy number can be accurately determined aiming at repeated regions or highly homologous genes at low cost.

Description

technical field [0001] The present invention generally relates to biological information processing, and in particular, to a method, computing device and computer storage medium for predicting the copy number of a gene to be tested. Background technique [0002] In the field of genetics, the determination of gene copy number is very important, especially for some dose-sensitive genes, such as HBA gene, there are 4 copies in healthy people, when the copy number is 3, it will cause static α-thalassemia; When the number is 2, it will cause α-thalassemia minor; when the copy number is 1, it will cause hemoglobin H disease (HbH disease), and the patient needs regular blood transfusion; when the copy number is 0, it will cause Hb Bart's edema syndrome, death in the fetus. In addition, the severity of the HBA phenotype was also affected by the copy number of the HBB gene. For another example, for the SMN1 gene, when there is only 1 copy or 0 copy, it will cause spinal muscular at...

AI Technical Summary

Problems solved by technology

Regarding multiple ligation probe amplification technology, one reaction can detect changes in the copy number of dozens of nucleotide sequences, so it has the characteristics of high efficiency and specificity, but the throughput of this technology is low, and specific base information cannot be obtained

Regarding the low-depth / high-depth genome-wide NGS sequencing technology, it has the characteristics of high throughput, but the accuracy and resolution are low, and the cost is high, especially for repetitive regions or highly homologous genes, it is difficult to accurately determine the gene copy number

[0004] In summary, the disadvantages of the traditional methods for predicting the copy number of the gene to be tested are: it is difficult to accurately determine the gene copy number for repetitive regions or highly homologous genes at low cost

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