Please note that this content was created in 2018. In the time since this material was posted, there may have been additional developments, advancements, and/or more current publications in this field.
AMP Education is constantly updating our educational offerings, and will remove or replace content that is no longer accurate. Please be sure to use the search function to find related or updated material available in our catalogue at educate.amp.org. The Training and Education Committee works with AMP Education Programs to bring you the most up-to-date and cutting-edge information on molecular pathology research, applications, and training.
This is a recording of a session from the AMP 2018 Annual Meeting & Expo. Purchase the entire AMP 2018 Annual Meeting & Expo Recordings for a significant discount!
Laboratories are increasingly utilizing complementary sequencing technologies for augmentation of data in difficult to characterize genomic regions. This session aims to examine the utility of generating long read data, including single molecule real-time sequencing and linked reads, to elucidate structural variant composition, detect fusion transcripts, quantify repeat expansions, resolve phasing, and improve mapping in repetitive regions. Optimization of such technologies in a development setting paves the way for translational and clinical applications.
Vincent Magrini, PhD, Institute for Genomic Medicine (IGM) at Nationwide Children's Hospital, Columbus, OH, USA
Catherine E. Cottrell PhD PhD, Nationwide Children's Hospital, Columbus, OH, USA
Objectives:
- Review the advantages of single molecule sequencing, including generating long read lengths to characterize structural variation.
- Describe the third-generation sequencing technologies, including single molecule real-time (SMRT) sequencing and nanopore sequencing, and how these technologies can also detect fusion transcripts, quantify repeats, resolve phasing, and improve mapping of repetitive regions.
- Identify new applications for these optimized sequencing methods in translational research and clinical diagnostic fields.
Duration: 1.00 hr
Recording Date: November 1, 2018
Last day to purchase: December 31, 2021
Note: Join the AMP Family for discounted access to the most current educational resources!
All sales are final. No refunds will be issued.
No digital files may be reproduced or transmitted in any form, by any means, electronic or mechanical. By purchasing a product, you agree to not share any of the course materials, including videos, downloadable slide presentations, outlines, manuscripts, etc. without explicit and written permission from AMP.
