Method and device for repairing genome sequencing and assembling results, and storage medium

Abstract

The invention discloses a method and a device for repairing genome sequencing and assembling results, and a storage medium. The method of the present invention comprises the following steps: comparinga genome assembling result to be verified with a Bionano molecular map, finding out areas with unmatched molecular markers or inconsistent lengths, and extending each of the upstream and the downstream of the genome sequence of every area for a preset length to form abnormal areas; respectively analyzing the coverage degrees of the abnormal areas by second-generation data and third-generation data; and repairing the abnormal areas according to the coverage degrees to obtain repaired genome assembling results. The method using a combination of a second-generation sequencing technology, a third-generation sequencing technology and the Bionano map to repair the genome assembling results solves the structural error introduced by the area complexity in genomic splicing in order to prevent excessive loss of the assembling results in structure conflct area operation processing of traditional Bionano verification, and also can process and verify the areas with inconsistent molecular lengths in Bionano and genome assembling results in order to improve the accuracy and integrity of genome splicing.

Description

technical field [0001] The present application relates to the field of nucleic acid sequencing, in particular to a method, device and storage medium for repairing genome sequencing assembly results. Background technique [0002] At present, the next-generation sequencing data obtained by the Illumina sequencing platform based on the whole genome shotgun method (WGS) has high sequencing throughput, high speed, high accuracy, and low cost, and can measure DNA fragment libraries of different insert sizes, especially Measuring the characteristics of large DNA fragment library sequences, for example, the ability to measure libraries with insert lengths greater than 1k, has been widely used in genome assembly analysis in the past few years. [0003] However, due to the short sequencing fragments of the next-generation sequencing method, the paired-end sequencing method is used, and it is difficult to correctly process the sequencing data for regions with high complexity within the...

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Problems solved by technology

[0006] (1) Use the Bionano molecular map to directly connect the assembly results, and directly interrupt the conflicting regions at the molecular markers. Due to the large distance between the molecular markers of the Bionano molecular map, this will lead to some actually normal sequences is also truncated, resulting in the loss of the original correct assembl

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