Explore a groundbreaking keynote presentation by Dr. Fritz Sedlazeck on structural variation mapping in Han Chinese individuals using long-read sequencing data. Delve into the comprehensive study of structural variants (SVs) across 499 Han Chinese genomes, utilizing Oxford Nanopore technology. Learn about the importance of SVs in human evolution and genetic disease, with a focus on non-Caucasian ethnicities. Discover insights on SV clustering, comparisons to other studies, SV desert regions, natural knockout genes, and SVs impacting traits such as height variation. Gain knowledge about the limitations of the GRCh38 reference genome and the methods used in this groundbreaking research. Earn PACE credits by watching this 51-minute webinar and following the provided instructions.
A Structural Variation Map of 499 Han Chinese Individuals Using Long-Read Sequencing Data
Overview
Syllabus
Intro
A structural variation map of 945 Han Chinese individuals using long-read sequencing data
Gold standards
Long read sequencing SV calling
Long read population sequencing
Sampling site
SV genotyping
SV results: 945 Han Chinese
Where do the SV cluster?
A comparison to other studies
SV desert region
Natural Knockout Genes
SV impacting traits
SV impacting height variation: ACAN
What are we missing in GRCh38?
Summary
Methods
Taught by
Labroots
