Structural variations in the form of DNA rearrangements and aneuploidies are well-known genomic alterations underlying human disease. Despite the ubiquitous nature of genome sequencing in basic research and clinical diagnostics, the mutational processes driving structural variation are yet to be well characterized. In this session, the speakers will describe the strengths of different sequencing technologies and informatics algorithms in identifying different types of genomic structural variation in both cancer and individual genomes.
Patterns of Complex Structural Variation across Thousands of Cancer Whole Genomes
Marcin Imielinski, MD, PhD, Weill Cornell Medical College, New York, NY, USA
Identification and Characterization of Cryptic Structural Variation in Human Genomes
Ryan Mills, PhD, University of Michigan, Ann Arbor, MI, USA
Objectives:
- Upon completion, participants will be able to describe the landscape of structural variation in human genomes and cancers.
- Upon completion, participants will be able to describe features of several complex structural variant patterns commonly observed in human cancer.
- Upon completion, participants will be able to describe the strengths and weaknesses of different sequencing techniques and algorithms in SV detection.
Duration: 1.50 hr
Recording Date: November 8, 2019
CME/CMLE credit: 1.50 hr
Last day to purchase course and CE claim credit: December 24, 2022
