PacBio Sequencing simultaneously provides long sequence reads, high consensus accuracy, minimal sequence bias, and methylation detection. I will highlight new advances and updates on applying PacBio sequencing in cancer research, including targeted sequencing, genome-wide structural variant detection and de novo assembly of cancer genomes. Other topics presented will include full-length RNA sequencing (Iso-Seq) for the detection of gene fusions and cancer-related transcript splice isoforms, and how high-accuracy single-molecule consensus reads (through a process called circular consensus sequencing (CCS)), a capability unique to PacBio sequencing technology, can be leveraged for high-resolution, phased minor variant analysis.
Learning Objectives:
1. Learn about new methods to detect larger-scale genetic variants in cancer genomes
2. Understand the utility of long-read PacBio sequencing for long-distance phasing of variants
3. Get familiar with full-length RNA-seq (Iso-Seq) for the detection of gene fusions and cancer-related transcript splice isoforms