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Approved Research

Comprehensive genetic correlation of disease from the point of germline structural variations associated with clinical phenotypes

Principal Investigator: Professor Soyeon Ahn
Approved Research ID: 98447
Approval date: April 17th 2023

Lay summary

The aim of the study is to uncover novel associations between common germline structural variations (SVs) and various traits and diseases and to replicate the associations between germline structural variations and clinical traits found in 2,500 Koreans. Through the study, we will be able to understand the nature of germline SVs associated with clinical traits such as the genomic regions that are frequently subject to trait-associated structural variations and what their effect sizes will be, etc. The trait or disease associated SVs will be incorporated into polygenic risk score that usually contain single nucleotide variations (SNVs) and will enable more accurate and reliable prediction of diseases for early detection and prevention of diseases. The study will last for about three years.