DETECTION METHOD OF GENE DELETION BASED ON NEXT-GENERATION SEQUENCING

摘要

The present invention relates to a method for detecting a deletion gene cluster based on next-generation sequence analysis. The gene deletion develops because of diseases, and it is important to find a gene deletion portion in the analysis of sequencing. However, conventional variant calling sequence analysis has limitations on detection of deletion gene. A read distribution sequence analysis method of the present invention is expected to be greatly used in diagnosis and monitoring of diseases by accurately discriminating and diagnosing wild type, hetero deletion type, and homo deletion type genes based on next-generation sequence analysis.