Method for gene copy number variation analysis

Abstract

The invention provides a method for gene copy number variation analysis. The method comprises the steps that (1) an index document and a reference genome of data are read in; (2) a sam document of a comparison result of the whole genome is divided according to chromosomes; (3) statistics is carried out to a comparison result of comparison sequencing data; (4) an average covering depth of each window on the genome is computed with 1KB as the window, and a result is given in the form of a list; (5) a chromosome covering depth picture is drawn according to the computing result, and a whole-genome covering depth picture is displayed according to the chromosomes, namely a covering depth picture is displayed separately for each chromosomes among the 24 chromosomes and the pictures are listed vertically; and (6) copy number variation is directly recognized from the pictures. The method provided by the invention has the advantages that the copy number variation on a human genome level can be accurately analyzed by high-throughput sequencing data, and the high-resolution pictures can be displayed; and the statistics can be carried out to the data comparison information, so that data assessment becomes convenient.

Description

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AI Technical Summary

Benefits of technology

This patented technology helps identify differences between different parts or sections within an individual's DNA sequence based upon their gene content (chromosoma). It also includes techniques like removing specific regions from the genomics with greater precision compared to previous methods such as comparing them individually. Additionally, it uses advanced technologies to analyze large amounts of data faster while reducing errors caused due to slight variations during processing. Overall, this method provides technical benefits over existing approaches.

Problems solved by technology

Technological Problem: Current methods used for identifying changes made during DNA sequence variations require manual inspections of all possible locations within an individual's body, which may result in increased costs associated with these procedures Additionally, there currently exist systems where only partial copies of specific parts of the sample are taken into account when determining if they contain mutations. These existing techniques often lead to overlapping sections between different types of cells, making it difficult to distinguish them accurately despite having many repeated elements present around their boundaries.

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