ncibtep@nih.gov

Bioinformatics Training and Education Program

Michael Schatz, JHU in BTEP Distinguished Speakers Seminar Series, June 10

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Title: Long Read Sequencing for Cancer Genomics and Beyond
Date: June 10
Time: 1 -2 PM
Location: Online Webinar

Abstract: Long read, single molecule sequencing from Pacific Biosciences (PacBio) and Oxford Nanopore are revolutionizing genomics with increased power to resolve and study genomes. Most notably, these technologies have recently enabled the sequencing of the first completely gap-free human genome and have enabled the discovery of tens of thousands of structural variants that were previously invisible to short read sequencing, including within clinically relevant genes. While these technologies were previously too slow, costly, and erroneous for widespread use, their recent improvements have made them competitive or superior to short read sequencing in nearly all ways. This is opening up new avenues for widespread applications for population and clinical studies, including of cancer. In this presentation, I’ll discuss how we are using these technologies for human genomics, with a focus on studying genomic and epigenomic instability in cancer.