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...

Abstract submissions for the T2T Face-to-Face conference are open through June 15th!  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...

A more complete understanding of human genetics starts with broader representation.  HPRC samples help capture global human genetic variation to build richer reference resources and improve disease research and genomic medicine.  Learn more: humanpangenome.org/samples/

Recent research explores the evolution and regulation of the human-specific NOTCH2NL gene family using near-complete long-read assemblies from humans and apes. Uncover the science behind it: www.cell.com/cell-genomic...

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...

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

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...

Scenes from the HUGO workshop in Athens, Greece 🇬🇷 HPRC collaboration in action, advancing pangenomics both stateside and abroad.

MemPanG26: join a computational pangenomics course, conference, and biohackathon exploring cutting-edge methods, AI, and genomic research. Talk proposals are welcome from varied perspectives across species and disciplines. Learn more & submit: pangenome.github.io/MemPanG26/

New tutorial 🛠️ Explore how to use VDJcraft, an integrated pipeline for analyzing V(D)J recombination from long-read transcriptome data. Kaili Hu walks through the workflow and real-world applications. Watch now: youtu.be/Zi8qTPSOAdc

HPRC is a global effort powered by collaboration. Associate members from academia, industry, and nonprofits contribute expertise, data, and tools that help advance the human pangenome.  Learn more: humanpangenome.org/associate-me...

How is HPRC continuing the legacy of the Human Genome Project? Bob Cook-Deegan shares how the shift from a single reference genome to a more inclusive pangenome is shaping the future of genomics and clinical care. ▶️ youtu.be/DtdcOAdXqWQ

Join the T2T Face-to-Face Conference in Santa Cruz, CA from Sept 3–4! Hosted at UCSC, this two-day meeting will bring researchers together to share the latest in telomere-to-telomere genome science. Registration open now: sites.google.com/ucsc.edu/t2t...

🌏 Registration is now open for the GA4GH 14th Plenary! September 28 to October 2, join the global genomics and health data community in Singapore to collaborate on advancing genomic and health data sharing worldwide. Learn more and register: broadinstitute.swoogo.com/ga4gh-14th-p...

How does collaboration shape research in HPRC? Juan Macias-Velsaco, PhD, shares how working with the consortium helped him transition from mouse genetics to graph-based methods for studying complex human genomes. ▶️ youtu.be/pmRL10amsdw

Current research is expanding the global pangenome. A UAE-based Arab Pangenome Reference identified 111.96 million base pairs of previously uncharacterized DNA absent from current human references and pangenomes, spotlighting the value of population representation. www.nature.com/articles/s41...

Join us at the ACMG Annual Clinical Genetics Meeting 2026 in Baltimore, MD, for the talk “Rewriting the Reference: Laboratory and Clinical Applications of the New Human Pangenome Reference.” Saturday, March 14 at 8AM EST. Learn more: www.acmgmeeting.net

In our Q&A, HPRC members discuss next-generation technologies, the importance of representing global human genetic variation, and how collaboration is accelerating discovery and advancing human health. Watch the full conversation: youtu.be/bJ7wkbwd5oU?...

Assembly: the sequence of an individual genome assembled from sequence data. In the context of a reference pangenome, high quality is imperative. Learn more about HPRC definitions: humanpangenome.org/definitions/

Human-specific gene duplications may help explain key features of the human brain. 🧠 Using a complete telomere-to-telomere genome, researchers identified 213 human-specific gene families and signals of selection across modern humans. Read the preprint: www.biorxiv.org/content/10.1...

IGGSy 2026 is coming! July 5 - 9, join researchers from around the world to explore genome graphs, pangenomics, and metagenomics, including a dedicated Human Pangenome Project session with keynotes from HPRC members. Registration open now! iggsy.org

What does “broad data sharing” really mean in genomics? A recent Nature Genetics Perspective clarifies the term and provides a framework for ethical sharing going forward. Uncover the research behind it: www.nature.com/articles/s41...

Clinical genetics is powerful, but much of the human genome remains poorly understood. In this Q&A, Andrew Stergachis, PhD, shares how HPRC research is helping uncover genetic variation, improve diagnosis, and open new paths toward treatment. ▶️: youtu.be/ghCJWp5jPdg

A recent preprint introduces the LungMAP Portal Ecosystem, a centralized, FAIR resource integrating single-cell, imaging, and multi-omic lung data across species, development, and disease. www.biorxiv.org/content/10.1...

HPRC champions collaboration across the globe. 🌎  Our progress is driven by the people, partnerships, and shared commitment behind the Human Pangenome Reference Consortium.  Learn more and explore our collaborations: humanpangenome.org

A scalable, lossless indexing method enables haplotype-aware querying of pangenome graphs. Tested on HPRC graphs, it scales efficiently while preserving accurate mapping. Uncover the research behind it: www.biorxiv.org/content/10.1...

HPRC is more than data and tools; it’s a collaborative experience that shapes careers. Listen to Prajna Hebbar and other HPRC members reflect on what it means to be part of the consortium. ▶️ youtu.be/bJ7wkbwd5oU

Even with HiFi sequencing, long-read metagenome assemblies can miss abundant species. A recent study introduces reference-free methods to measure completeness and recover missing genomes, improving microbial community representation. pmc.ncbi.nlm.nih.gov/articles/PMC...

“And the goal of the HPRC project is just to build this common reference and release it to the world.” Uncover why a globally representative pangenome matters and how it helps make genomics work for everyone. Hear from HPRC member, Faith Okamoto: youtu.be/qZrPM8KI-Js

Recent work brings forth MaxFuse, a modality-agnostic method for integrating cross-modal, single-cell, and spatial data. MaxFuse improves integration accuracy and enables joint spatial analysis of proteomic, transcriptomic, and epigenomic data. pmc.ncbi.nlm.nih.gov/articles/PMC...

[We’re] building the computational infrastructure for pangenomics, not just for us, but for everyone.” In our new Q&A, HPRC members share what motivates their work and how a more comprehensive pangenome will transform genomics. Tune in: youtu.be/bJ7wkbwd5oU?...

A new era of genomics: gapless genomes and pangenomes are boosting accuracy and representation in human genetics research. Uncover the science behind it: pubmed.ncbi.nlm.nih.gov/38663087/

This season, we’re grateful for the chance to share the work, voices, and perspectives of the HPRC community. Our new Q&A video features members from across the consortium reflecting on the technologies, collaborations, and insights shaping the human pangenome. Watch here: youtu.be/bJ7wkbwd5oU?...

💡 Novel work supported by HPRC members highlights Locityper, a tool bringing accurate genotyping to some of the most challenging regions of the human genome. Fast and precise, it outperforms current pipelines and scales to biobank-sized cohorts. More at: www.nature.com/articles/s41...

A new method using the Shasta assembler and GFAse tool improves the phasing of Oxford Nanopore Technologies (ONT) sequence data, enabling chromosome-scale phasing with higher accuracy and reduced complexity. Learn more: pmc.ncbi.nlm.nih.gov/articles/PMC...

Curious about the work behind the Human Pangenome Reference Consortium? Discover how researchers worldwide are working together to build a more complete reference of human genetic variation. Learn more at humanpangenome.org

Wishing everyone a spook-tacular Halloween! 👻 Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!

Transposable elements (TEs) do more than regulate genes; they help shape and preserve 3D genome structure across species. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

Next week, we're headed to #ASHG2025! HPRC members will be sharing their latest research and insights throughout the week. See who's presenting ⬇️

🌍 Researchers from around the world are joining forces through the Human Pangenome Reference Consortium to develop a more comprehensive and dynamic pangenome resource. Learn more about our mission: humanpangenome.org

A complete telomere-to-telomere genome sequence reveals 213 human-specific gene families, including candidates shaping brain evolution. Functional studies highlight roles for GPR89B and FRMPD2B in brain expansion and synapse signaling. Read more in Cell: www.cell.com/cell/abstrac...

HPRC will see you at #ASHG! Join our workshop, The Human Pangenome: Data, Tools, and Workflows, on Oct 14 (10–12 pm) + look out for HPRC member presentations throughout the meeting. Check out the presentations highlighted below, with more to come!

👣 A big step forward for pangenome research. New tool ropebwt3 makes large-scale BWT indexing feasible, scaling to hundreds of human genomes & terabases of bacterial assemblies. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

The Human Pangenome Reference Consortium is building a more complete and inclusive reference for human genetics, one that better reflects human variation and drives new discoveries. Our story: humanpangenome.org

~25% of human candidate cis-regulatory elements (cCREs) are derived from transposable elements, further shaping gene regulation, TF binding, and GWAS variant enrichment. Uncover the science behind it: www.biorxiv.org/content/10.1...

#ASHG25 is a little over a month away! As you plan your schedule, don’t forget to pencil in time for the HPRC workshop on Tuesday, October 14, from 10am - 12pm. Details and registration below: www.ashg.org/product/ashg...

A scalable indexing framework for pangenome graphs enables efficient, lossless, and haplotype-aware queries. Tested on HPRC graphs, it preserves accuracy while improving scalability. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

Collaboration drives progress. From Coriell and the Genome Reference Consortium to Google and GA4GH, HPRC partners bring essential expertise to building the human pangenome. Learn more about our partnerships: humanpangenome.org/partners/

Pangene, an innovative computational tool, maps gene orientation, order & copy-number changes across genomes. Applied to the human pangenome, it reveals both known variation & complex haplotypes. Read more: academic.oup.com/bioinformati...

🔍 Explore the Human Pangenome! Our interactive Data Explorer makes it easy to navigate sequencing, assemblies, annotations, and alignments from the HPRC. Start exploring the data here: data.humanpangenome.org/raw-sequenci...