Assembly and annotation of reference-quality human genomes

Event overview

With the development of long-read sequencing technology and improved computational methods, it is now possible for small teams of researchers to create reference-quality genome assemblies which will lead to a better understanding of the full spectrum of human genetic variation.

Using sequencing data from the Human Pangenome Reference Consortium, Alaina and her team have created a reference-quality assembly from an Ashkenazi individual and another from a Puerto Rican individual – both of which are more contiguous than the current GRCh38 reference genome. For a genome to function as an effective reference, it also needs to be accurately annotated. For this, they developed Liftoff which is a lift-over tool specifically designed for gene annotations. With Liftoff, they were able to map more than 99% of human protein-coding and non-coding genes onto both assemblies.

Listen to this webinar to learn:

• The importance of developing a diverse set of human reference genomes
• Computational methods for assembling high-quality genomes using long-read sequencing data
• Computational methods for mapping annotations onto new reference genomes

Meet the speaker

Alaina Shumate is Ph.D. candidate in Biomedical Engineering at Johns Hopkins University, where she is advised by Dr. Steven Salzberg. Her research is focused on the development of computational methods for genome annotation. Prior to starting her Ph.D., she completed her B.S. in Bioengineering at Stanford University in 2016.