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Intro
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A structural variation map of 945 Han Chinese individuals using long-read sequencing data
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Gold standards
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Long read sequencing SV calling
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Long read population sequencing
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Sampling site
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SV genotyping
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SV results: 945 Han Chinese
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Where do the SV cluster?
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A comparison to other studies
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SV desert region
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Natural Knockout Genes
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SV impacting traits
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SV impacting height variation: ACAN
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What are we missing in GRCh38?
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Summary
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Methods
Description:
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

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