Updates and Applications of the Human Pangenome Reference

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The NHGRI-funded Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. The project leverages innovations in technology and study design to construct the highest possible quality human pangenome reference. With attention to ethical frameworks, the human pangenome reference will contain a more accurate and diverse representation of global genomic variation, improve disease association studies across populations, expand the scope of genomic research to the most repetitive and polymorphic regions of the genome, and serve as the ultimate genetic resource for future biomedical research and precision medicine.

The HPRC is poised to release another set of haplotypes before ASHG 2024. In addition to releasing these data, the HPRC is working across scientific communities to foster a new ecosystem of analysis tools. We aim to facilitate community engagement with the pangenome via outreach and education to create an expert user base of the pangenome reference to ensure that researchers are well-positioned to accelerate research. After completing the webinar, attendees will have learned how to access HPRC data and resources. They will be able to conduct variant analyses using the pangenome and they will be able to utilize tools for mapping functional genomics data, such as RNAseq and DNA methylation data, to the pangenome.

Overview of Presentation:

Introduce participants to the pangenome project and its resources
Conduct Variant analysis using the pangenome
Provide instruction using alignment and analysis for functional genomics
Facilitate engagement with the pangenome and summarize the tools available to the community

Heather Lawson, PhD

Dr. Lawson received her PhD in Biological Anthropology from Penn State in 2008. She went on to do a postdoc with Dr. Jim Cheverud at Washington University where she focused on characterizing gene-by-environment interactions and parent-of-origin effects on metabolic traits in mice. She started her lab in 2015, using systems biology to elucidate the (epi)genetic architecture of complex traits. She is currently a member of the Human Pangenome Reference Consortium (HPRC), the Impact of Genomic Variation on Function Consortium (IGVF), and the Somatic Mosaicism across Human Tissues Network (SMaHT).

Robert Fulton

Mr. Fulton is an Assistant Professor of Genetics at Washington University School of Medical in St. Louis and the Director of Technology Development at the McDonnell Genome Institute (MGI). His role is to develop and deliver genomic solutions to a broad range of clinical and research questions based on his 30-plus years of experience in the generation of DNA sequence and analysis. Mr. Fulton holds bachelor’s (genetic engineering) and master’s degrees, both from Southern Illinois University, Edwardsville.

Juan Macias-Velasco, PhD

Dr. Juan F. Macias-Velasco is a postdoctoral research associate in the Department of Genetics at Washington University in St. Louis. He earned his B.S. in Biology from The University of Texas at Tyler, his M.S. in Biotechnology from The University of Texas Health Science Center at Tyler, and his Ph.D. in Computational and Systems Biology from Washington University in St. Louis. During his postdoctoral tenure in the lab of Dr. Ting Wang, Dr. Macias-Velasco has led the Collaborative and Integrative Genomics group at the McDonnell Genome Institute. He actively participates in the Human Pangenome Research Consortium and the Impact of Genomic Variation on Function Consortium, contributing to the development of pangenomic methods. Dr. Macias-Velasco’s work aims to enhance the understanding of the gene regulatory landscape and its implications for regenerative medicine. He has received recognition for his contributions to the field, including multiple presentations at national and international conferences, and has published extensively on topics related to functional genomics and systems biology.