ASHG 2026 The Human Pangenome Release 3: Data, Tools, Applications, and Ethics - ASHG
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ASHG 2026 The Human Pangenome Release 3: Data, Tools, Applications, and Ethics

$65.00

Saturday, October 24: 8:15 AM – 10:15 AM
Pricing: $50 ASHG member, $65 nonmember. Registration and advance ticket purchase required to attend.

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SKU: ashg2026-human-pangenome Categories: ,

Description

Instructors: Heather Lawson, Glenn Hickey, Nanibaa’ Garrison, Isabel Angres, Alex Ioanidis, Andrew Stergachis

At this workshop we will introduce participants to the HPRC Release 3 and offer instruction for the following: (1) Pangenome 101: What it is and where to download the data; (2) Functional Applications: e.g. Kinnex and Fiber-seq datasets for functional inference; (3) Population Genetics Applications: e.g. Sampling and Local Ancestry Inference; (4) Tools for variant calling: Hands-on instruction for mapping reads to pangenome/VCF and how to report SV typing; and (5) Interactive discussions on Ethics and Future Data Governance: How to implement the FAIR and CARE principals.

Session Details:

  1. What is the Human Pangenome: Data and technology overview (lecture) [20 minutes]
    1. We will introduce the community to the HPRC Release 3, describe the pangenome, the technologies used to generate assemblies, and where to access HPRC data. This will include a featured discussion on emerging functional datatypes framed around the pangenome (Kinnex and Fiber-seq).
  2. Who is included in the Pangenome? (demonstration) [20 minutes]
    1. We will describe population sampling and Local Ancestry Inference
  3. Tools for variant calling (hands-on instruction) [50 minutes]
    1. We will instruct participants on mapping short reads to pangenome/VCF and on methods for reporting SV typing
  4. Discussion on Ethics, Data Governance and FAIR/CARE (interactive discussion) [20 minutes]
    1. We will illustrate how HPRC is implementing FAIR and CARE principles through guided discussions and examples.
  5. Q&A [10 minutes]

Learning Objectives:

  1. Summarize the HPRC reference resource Release 3 data and technologies used to generate assemblies.
  2. Illustrate what a pangenome reference is and how to access HPRC data, including emerging functional and population genetic data.
  3. Illustrate how to utilize tools for mapping short- and long-read data to pangenome/VCF and report variants.
  4. Illustrate how to begin the process of implementing FAIR and CARE principles, ensuring socially responsible and ethical data use and management.

Additional Information:

Basic level.

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