EP180: Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases

Abstract

Identifying monogenic causes of complex diseases is important for disease prevention and early intervention. Genetic testing through deep-depth diagnostic sequencing provides an accurate way to detect such monogenic disease variants. Yet, due to the high cost (up to thousands of dollars) of technologies such as gene panel sequencing and exome sequencing, routine genetic testing is still uncommon in clinical settings.