Description: 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 detection of novel isoforms from PacBio Iso-Seq.
Teachers: Madeline Couse (HPC4Health, SickKids) and Lauren Liang (HPC4Health, SickKids)
Level: Intermediate
Format: Lecture + Hands-on
Certificate: Attendance
Prerequisite: Basic knowledge about DNA/RNA sequencing.