---
title: Assembly and Annotation of Reference-Quality Human Genomes
description: 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.
image: https://go.technologynetworks.com/hubfs/38274_OxfordNanopore_HumanGenomes_260721_LA-640x360.png
---

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Webinar

# Assembly and Annotation of Reference-Quality Human Genomes

Now Available On Demand

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, we 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, we developed Liftoff which is a lift-over tool specifically designed for gene annotations. With Liftoff, we were able to map more than 99% of human protein-coding and non-coding genes onto both assemblies.

**Attend this webinar to explore:**

- 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

**Speaker Information:**

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**Alaina Shumate**

Ph.D. Candidate

Department of Biomedical Engineering

Johns Hopkins University

 

 

**Attend this webinar to explore:**

- 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

Watch for FREE Now!

 

 

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