London Calling 2023: Filling the gap with long-read sequencing: lessons learned from Genomics Thailand

Short-read sequencing has been widely used in genomics research and clinical application, with its known limitations in resolving complex genomic regions, such as repetitive sequences and structural variations. Copy number variation (CNV) is a common structural variation in some cancer genes. In this talk, we will discuss the challenges of short-read germline sequencing in detecting CNVs in cancer susceptibility genes and the potential use of long-read sequencing to fill this gap. We will focus on lessons learned from Genomics Thailand's experience in applying long-read sequencing to study CNVs in a cancer research cohort and the potential clinical applications of long-read sequencing in hereditary cancer diagnosis.