Technological advancements have increased the ability to detect structural variants. These new tools are now being applied by laboratories for the diagnosis of constitutional disorders in affected individuals. This session seeks to highlight the potential for new structural variant detection methods to impact clinical diagnosis and provide practical guidance for clinical laboratories interested in adopting these methods.
Mate Pair Sequencing as a Tool to Increase Diagnostic Yield for Constitutional Genetic Disorders
Nicole Hoppman, PhD, Mayo Clinic, Rochester, MN, USA
Application of New Methods of Structural Variant Detection in the Clinical Laboratory
Madhuri Hegde, PhD, PerkinElmer, Duluth, GA, USA
Simple and Complex Variants Detected by Short and Long Read Sequencing
Stephen Lincoln, Invitae, Potomac, MD, USA
Objectives:
- Recognize the contribution of structural variants to constitutional genetic disorders.
- Evaluate new technologies for the high-resolution detection of structural variants.
Recording Date: November 19, 2020
Continuing Education Credit Information
CME/CMLE credit: 1.50 hr
Last day to purchase course and CE claim credit: February 16, 2024
Note: Members of AMP can access this at a discount. Join the AMP Family!
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.
