DNA next generation sequencing whole-process quality analysis method

Abstract

The invention relates to a DNA next generation sequencing whole-process quality analysis method. The method comprises the steps 1), genetic sequencing is conducted on a biological sample; 2), biological sequencing data obtained by genetic sequencing is uploaded; 3), quality analysis is conducted on an original sequencing sequence file fastq; 4), quality analysis is conducted on a bam file on whichgenome comparison is completed; 5), quality analysis is conducted on a mutation information vcf file. The method has the advantages that a detailed quality report is given by adopting genetic sequencing whole-process, the accuracy of each step can be ensured, a correct result can be given in the final result, detailed analysis is conducted on the fastq, the bam and the vcf file, the quality analysis report is not only an evaluation operation on the reliability of the result but also a feedback of an original experimental operation, and the practical demands can be well met.

Description

technical field [0001] The invention belongs to the technical field of genome sequencing, and in particular relates to a quality analysis method for the whole process of next-generation DNA sequencing. Background technique [0002] DNA next-generation sequencing technology is becoming more and more mature, and its price is falling. It has been widely used in research and diagnosis in various fields of medicine. For example, in genetic diseases, whole-exome sequencing or genome sequencing is often done, aiming to find out the mutation sites that cause disease and help patients diagnose and use and develop drugs. In tumors, the mutation information on the genome can help patients to effectively choose treatment options, which can reduce the economic burden and increase the chance of treatment. [0003] Although next-generation sequencing can help research and diagnosis in the medical field, unqualified data cannot effectively help clinical practice, and may even mislead clini...

AI Technical Summary

Problems solved by technology

Even if the inspection generally only uses samtools to output the quality information of all sites, the information in this way will be excessively redundant, the visualization effect is poor and the search efficiency is low

Vcf files often do not have a quality report, and directly give the results of mutation information, which can be checked with the naked eye through IGV using manpower. However, IGV operations are complex and inefficient, and it is impossible to manually judge sites on a large scale and quickly.