2020 Short Course - Essential Fundamentals - Next Generation Sequencing From The Beginning-What's New in NGS

Video Transcription

Video Summary

The video is a presentation by Elaine Mardis on the new developments in Next Generation Sequencing (NGS), specifically focusing on long-read technologies and RNA sequencing. Mardis begins by discussing the differences between short and long reads, highlighting the advantages of long reads in terms of identifying structural alterations and novel content in genomes. She then explains the technology behind Pacific Biosciences' single molecule real-time sequencing and how it utilizes zero-mode waveguides to capture DNA polymerase activity and generate long reads. Mardis also presents data on the PacBio platforms and the improvements in accuracy and read lengths over time. She also mentions the emergence of Oxford Nanopore, a different sequencing device that uses protein nanopores and electrical conductance to sequence DNA. Mardis discusses the challenges and techniques for extracting high-quality RNA from samples, including ribosomal RNA depletion and hybrid capture approaches. She also explains various applications of RNA sequencing, such as detecting mutations and fusion genes, analyzing gene expression profiles, and assessing the immune cell content in tumor microenvironments. Mardis concludes by mentioning the use of genomics in clinical decision-making, specifically in targeted therapies and immune checkpoint blockade therapies, as well as the prediction of neoantigens for immunotherapy.

Asset Subtitle

Elaine Mardis

Keywords

Next Generation Sequencing

long-read technologies

RNA sequencing

PacBio platforms

Oxford Nanopore

RNA extraction

gene expression profiles

immunotherapy