Diverse Human References Drive Genomic Discoveries for Everyone
Human Pangenome Reference Consortium
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Abstract submissions for the T2T Face-to-Face conference are open through June 15th!Â
Join the community Sept. 3–4 in Santa Cruz, CA, for two days of discussion and collaboration around telomere-to-telomere genomics and pangenomics.
Learn more: sites.google.com/ucsc.edu/t2t...
What is a reference genome? 🧬
In the context of HPRC, a reference genome is a low-error genome and associated annotation coordinate system that serves as the backbone for genome alignment.
Explore more HPRC definitions: humanpangenome.org/definitions/
Researchers generated an atlas of telomere-spanning molecules across 212 diploid human genomes, uncovering heritable telomere variant repeat “codes” and insights into telomerase-independent telomere extension mechanisms.
Uncover the science behind it:
www.biorxiv.org/content/10.6...
How can collaboration shape a scientific career?
Andrea Guarracino, PhD, shares how HPRC transformed his path, from developing genome tools to making discoveries and teaching globally.
▶️ Watch the Q&A:
youtu.be/yxmnq2rUaEk
Recent research resolves 135 chromosome 22q11.2 haplotypes, revealing structural variation that influences susceptibility to 22q11.2 deletion syndrome and helping to explain reduced prevalence among individuals of African ancestry.
www.nature.com/articles/s41...
Recent research explores the evolution and regulation of the human-specific NOTCH2NLÂ gene family using near-complete long-read assemblies from humans and apes.
Uncover the science behind it:
www.cell.com/cell-genomic...
What new technologies are shaping the future of genomics?
Erik Garrison, PhD, discusses advances in genome assembly, long-read sequencing, and pangenome graphs, and how they’re helping reveal previously hidden regions of the human genome.
▶️ youtu.be/BmbcGyrmPu4
Human Pangenome Reference Consortium
A more complete understanding of human genetics starts with broader representation.Â
HPRC samples help capture global human genetic variation to build richer reference resources and improve disease research and genomic medicine.Â
Learn more: humanpangenome.org/samples/
Human Pangenome Reference Consortium
Scenes from the HUGO workshop in Athens, Greece 🇬🇷
HPRC collaboration in action, advancing pangenomics both stateside and abroad.
Human Pangenome Reference Consortium
Human Pangenome Reference Consortium
A recent preprint introduces TumorLens, a long-read framework for unified cancer profiling, detecting genetic and epigenetic alterations in a single assay, from SNVs to methylation.
Uncover the science behind it: www.medrxiv.org/content/10.6...
The authors resolve 63 structurally diverse haplotype structures for the 22q11.2 deletion syndrome region. Deletion risk differs depending on structure; individuals of African ancestry are enriched fo...
Human-specific NOTCH2NL segmental duplications are implicated in brain cortical expansion.
Analysis of 82 long-read assemblies from apes and humans shows independent duplications.
Human-specific NOTCH...
www.cell.com
Population Sampling and Representation
humanpangenome.org
YouTube video by Human Pangenome Reference Consortium
Accurately resolving the full spectrum of somatic alterations remains a major barrier in cancer genomics. Current short-read sequencing methods often prioritize SNVs and copy-number changes while over...
