Description
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
