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...
We're live at #ASHG2025!
Don't forget to look out for HPRC member presentations, happening this week.
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
