Скачать или смотреть A Short Story Long: Using Linked Long-Read Sequencing in Clinical Laboratories

In this presentation, we will explore the potential of linked reads in clinical environments. We'll begin by introducing the concept of long-read sequencing and its advantages over traditional short-read sequencing methods, particularly in resolving complex genomic regions. Next, we'll dive into TELL-Seq technology, which combines the benefits of long reads with the high accuracy of short reads. We'll walk through the TELL-Seq workflow, from DNA extraction to the bioinformatic analysis of the data. To illustrate the clinical potential of TELL-Seq, we'll present a case study on the PMS2 gene, showcasing the platform's ability to evaluate variants in this complex, clinically relevant gene. Finally, we'll discuss the implications and future applications of linked long-read sequencing technologies in clinical laboratories, considering their potential to enhance genomic analysis and improve patient care.