Pediatric Rare Disease Genomes and the Role of Long-Read Sequencing

Learn how Children’s Mercy Kansas City successfully analyzed samples from 960 families with suspected genetic disorders and prior negative genetic tests. Using HiFi long-read sequencing, the research team was able to obtain more data than with previous technology. They found that HiFi sequencing yielded an increased explanation rate with more than four-fold rare coding structural variants than short-read sequencing.

Access the presentations to:

  • The Children’s Mercy Kansas City study design and its key findings
  • Why the research team chose to use HiFi long-read sequencing and what evidence gap they wanted it to address
  • Considerations for implementing HiFi long-read sequencing into existing rare disease research studies

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Author, Affiliation

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Ana Cohen, PhD

Assistant Director, Molecular Genetics, Children’s Mercy Kansas City,
Assistant Professor of Pathology, University of Missouri-Kansas City School of Medicine

Emily G. Farrow, PhD, CGC

Director, Laboratory Operations,
Genomic Medicine Center, Children’s Mercy Kansas City

Edd Lee

Director, Rare and Inherited Disease
Host and moderator

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.