Bioinformatics: Long-read Sequencing Applications

Long-read sequencing technologies enable the sequencing of DNA fragments 10KB and longer. This read length greatly improves sequence mappability and assembly, providing an advantage over short-read sequences that are difficult to map uniquely to repetitive and GC-rich regions. Long-read sequencing has applications in a number of fields including genome assembly, diagnosis of genetic diseases, and metagenomics. In this workshop, we will focus on PacBio HiFi sequences and introduce you to tools for haplotyping, calling and visualizing structural variants and repeat expansions, visualizing read methylation, and detecting novel isoforms from PacBio Iso-Seq data. Participants will be offered hands-on practice in which they will use RStudio to run R/BioConductor scripts for data analysis as well as the Integrative Genomic Viewer (IGV) software to visualize genomic data on their laptops

Level: Intermediate

Length: 3 Hours

Format: Lecture + Hands-on

Prerequisites: Basic R