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

A copy number and gene technology, applied in the field of predicting the copy number of the gene to be tested, can solve the problems of low accuracy and resolution, high cost, and low throughput

Active Publication Date: 2022-04-29
BERRYGENOMICS CO LTD
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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, bu

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

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Embodiment Construction

[0029] Preferred embodiments of the present invention will be described in more detail below with reference to the accompanying drawings. Although preferred embodiments of the invention are shown in the drawings, it should be understood that the invention may be embodied in various forms and should not be limited to the embodiments set forth herein. Rather, these embodiments are provided so that this disclosure will be thorough and complete, and will fully convey the scope of the invention to those skilled in the art.

[0030]As used herein, the term "comprise" and its variants mean open inclusion, ie "including but not limited to". The term "or" means "and / or" unless otherwise stated. The term "based on" means "based at least in part on". The terms "one example embodiment" and "one embodiment" mean "at least one example embodiment." The term "another embodiment" means "at least one further embodiment". The terms "first", "second", etc. may refer to different or the same o...

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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...

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Application Information

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IPC IPC(8): G16B20/10G16B30/00
CPCG16B20/10G16B30/00
Inventor 卢玉林李佳琪毛爱平任志林
Owner BERRYGENOMICS CO LTD
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