New methods to characterize VNTR variation in human genomes

Understanding DNA variation and accurately cataloging their sequences is the first step in unraveling how they impact human traits and diseases. Variable number tandem repeats (VNTRs) make up almost 3% of the human genome and are difficult to map, due to their repetitive nature.

PacBio highly accurate long-reads (HiFi reads) can span most repeats, making it possible to comprehensively profile variation in repeat regions, enabling new discoveries in human genomics.

Watch the recording to learn about new computational methods to characterize VNTR variation in human genomes.

Discuss the challenges of mapping and analyzing VNTRs
Present evidence of functional impact of VNTR variation
Present computational methods to study repetitive DNA using short and long-read sequencing
Show data demonstrating higher repeat diversity when using HiFi reads and new annotation methods

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Application(s) of interest EpigeneticsWhole Genome SequencingTargeted SequencingRNA Sequencing

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Speakers

Mark Chaisson, PhD
Assistant Professor
Computational Biology and Bioinformatics
University of Southern California

Mark Chaisson, PhD
Assistant Professor
Computational Biology and Bioinformatics
University of Southern California
Guest speaker

Democratizing Genome Assembly and Annotation

Ted Kalbfleisch, Ph.D., Associate Professor, University of Kentucky

Molecular Genetic Applications Enabled by Platinum Quality Reference Genome Assemblies in Octoploid Strawberry

Mitchell Feldmann, Ph.D., Postdoctoral Fellow, University of California, Davis.