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SNV detection system affecting RNA splicing

An RNA splicing and detection system technology, applied in the field of SNV detection system, can solve the problems of RNA splicing change, affecting the effective translation of mRNA, etc., and achieve the effect of improving accuracy

Inactive Publication Date: 2016-09-21
WANKANGYUAN TIANJIN GENE TECH CO LTD
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Problems solved by technology

SNVs that occur at exon-intron boundaries can lead to altered RNA splicing, affect efficient translation of mRNA, and lead to human disease

Method used

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  • SNV detection system affecting RNA splicing
  • SNV detection system affecting RNA splicing
  • SNV detection system affecting RNA splicing

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Embodiment Construction

[0027] It should be noted that, in the case of no conflict, the embodiments of the present invention and the features in the embodiments can be combined with each other.

[0028] The present invention will be described in detail below with reference to the accompanying drawings and examples.

[0029] Method principle of the present invention:

[0030] The present invention predicts the impact of SNV on RNA splicing, integrates three softwares based on different algorithms to predict RNA splicing sites, takes the SNV information file as input, and extracts the 100bp sequences upstream and downstream of the SNV site before and after the mutation and their directions The complementary sequence predicts the splicing site, thus, the change information of DNA positive strand and negative strand RNA splicing site before and after mutation is obtained.

[0031] First, the sequence is extracted. The present invention not only extracts the normal sequence fragments when no mutation occ...

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Abstract

The invention provides an SNV detection system affecting RNA splicing. The SNV detection system comprises the following steps of: step 1), according to locus information and genome sequence information of an SNP file, extracting upstream and downstream sequences at 100bp and a reverse complementary sequence of the locus before and after mutation; step 2), using the sequences extracted in step 1) to respectively predict splice loci based on three different methods, that is, a maximum entropy principle, a Markov model and an artificial neural network; and step 3), integrating according to a prediction score result of the three methods, and screening out the SNV having an effect on the RNA splicing. According to the SNV detection system affecting the RNA splicing provided by the invention, changes of the RNA splicing before and after mutation are predicted by integrating these three methods and taking SNV data as input, and the SNV affecting the RNA splicing is acquired, thereby effectively improving the prediction accuracy and providing reference for biological experiments and clinical researches.

Description

technical field [0001] The invention belongs to the field of gene information data processing, and in particular relates to an SNV detection system affecting RNA splicing. Background technique [0002] RNA splicing is the process of deleting introns and connecting exons in pre-mRNA to generate mature mRNA. RNA splicing is an important part of gene regulation. The mechanisms regulating RNA splicing are complex and involve many RNA-binding proteins. The splicing process requires recognition of exon-intron boundaries. SNVs that occur at exon-intron boundaries can lead to changes in RNA splicing, affect the efficient translation of mRNA, and lead to the occurrence of human diseases. Therefore, it is crucial to study the impact of SNVs on RNA splicing. [0003] In most eukaryotes, the 5' borders of introns or donor splice sites usually contain the dinucleotide GT, while the 3' borders of introns or acceptor splice sites usually contain the dinucleotide AG. In addition to the...

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Application Information

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IPC IPC(8): G06F19/12
CPCG16B5/00
Inventor 薛成海关晋霞郭晓丹
Owner WANKANGYUAN TIANJIN GENE TECH CO LTD
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