公开(公告)号：US20230223104A1

公开(公告)日：2023-07-13

申请号：US18152037

申请日：2023-01-09

Applicant: GIST (Gwangju Institute of Science and Technology)

Inventor： Hyunju LEE ,  Yeonghun LEE

IPC: G16B20/00 ,  G16B45/00

CPC classification number: G16B20/00 ,  G16B45/00

Abstract: Disclosed is a genome reconstruction method using whole genome data. According to the present invention, the genome reconstruction method reduces detection errors by converting a nucleotide sequence having a structural variation into a graph form, and then reconstructing the graph so that the structural variation and the copy number variation have consistent values. Thereafter, the genome arrangement form was restored by constructing a haplotype graph using heterozygous single nucleotide polymorphism information and then finding an Eulerian path with a minimum entropy value.