Method and system for rapidly obtaining rare disease pathogenic site

Abstract

The invention provides a method and a system for rapidly acquiring a rare disease pathogenic site. The method comprises the following steps: constructing a comparison pairing coordinate matrix, detecting variation and genotyping according to a difference comparison pairing mapping relationship and a position where the difference comparison pairing mapping relationship is located, and scoring all variation to screen out pathogenic / possible pathogenic variation. The method and the system constructed by the invention can be used for rapidly and comprehensively detecting the first-generation sequencing result of the rare disease gene and obtaining the pathogenic / possible pathogenic variation points, so that the error of artificial variation identification is avoided, and the working efficiencyand the variation detection accuracy and comprehensiveness are improved.

Description

Technical field [0001] The present invention relates to the field of rare pathogenic detection, and more particularly to a rapid detection variation from gene generation sequencing and determine a pathogenic site. Background technique [0002] Rare disease is mainly genetic disease caused by gene variability, and needs to rely on genetic testing reports to confirm the causes and guidance. Such as hemophilia, Mediterranean anemia, phenyltrinone urine, apronal genetic genetic rare disease, etc., using second-generation sequencing, etc., using generation of sequencing, using generation sequencing can be obtained low cost high speed. The sequence of the gene is except for the sequence of sequencing and the gold standard technique for verifying the variation site, and is widely used in the field of gene detection. [0003] However, the existing generation of gene sequencing results is to analyze if there is a variation in artificial judgment chromatogram, and the variations and genoty...

AI Technical Summary

Problems solved by technology

[0003] However, the analysis of the existing first-generation gene sequencing results is through manual interpretation of chromatograms to analyze whether there are variations, which cannot quickly and accurately identify the variations and genotypes in the first-generation sequences, especially unknown variations

A gene needs multiple generations to cover the full length. Variation analysis of multiple results requires high manpower and time costs, and the process cannot be quality-controlled. Different technicians may identify different mutation results, and there is a possibility of missed detection. Risk; After the mutation is detected, it must be handed over to the report interpreter to search for information such as databases and literature that include the mutation, and to screen out the pathogenic / possible pathogenic sites for pathogenicity ratings before issuing a mutation detection result report

For definite monogenic rare diseases, the work is highly repetitive and the overall efficiency is low. An automated method and system that can quickly and comprehensively obtain the pathogenic loci of rare diseases is needed to improve the reporting efficiency and variation of the first-generation genetic testing for rare diseases. Test comprehensiveness and accuracy, improve process controllability

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