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...

Accurate genome assemblies just got better. DeepPolisher improves base-level accuracy, cutting errors by 50%+ and indels by >70%, applied to 180 HPRC assemblies. Uncover the science behind it: www.biorxiv.org/content/10.1...

Headed to #ASHG25? Don’t miss HPRC’s workshop on the Human Pangenome: Data, Tools & Workflows. 📅 Oct 14 | 10AM–12PM Learn how to access data & use pangenome tools! www.ashg.org/product/ashg...

The largest WGS study of 9p-related syndromes to date analyzes 100 individuals, revealing key genes, structural variation mechanisms, and insights into development. Learn more... pmc.ncbi.nlm.nih.gov/articles/PMC...

Tune in to @scifri.bsky.social as experts discuss the analysis of 65 genomes from individuals around the world and how this work advances our understanding of human genetics and genome function. 🎧 Listen here: www.sciencefriday.com/segments/65-...

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. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

🚌 School’s back in session, and like dedicated students everywhere, our ELSI team is working hard to explore the ethical, legal, and social implications of building a more comprehensive human reference genome. Meet the team behind it: www.humanpangenome.org/elsi-team/

The WashU Epigenome Browser update brings faster performance, a new UI, and new tools for long-read & single-cell methylation data, plus genome assembly comparisons like hg38 vs chm13. Uncover the hard work behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

Join HPRC at ASHG 2025 for a workshop on the Human Pangenome: data, tools & workflows. 📅 Oct 14 10AM–12PM | Learn how to access, analyze & work with the pangenome. Details: www.ashg.org/product/ashg...

From the western hemisphere to the east 🌐 ... HPRC brings together institutions from across the globe. Though separated by distance, we’re united by one common goal - building a pangenome reference that captures the full scope of human genomic variation.

A more complete understanding of human genetics starts with accurate, high-quality reference genomes. HPRC is building a reference that reflects the breadth of human genetic variation, supporting better prediction, diagnosis, and treatment. Learn more: humanpangenome.org/samples/

An emerging polishing pipeline, DeepPolisher, improves genome assemblies by reducing indel errors and correcting false homozygosity. Applied to 180+ HPRC assemblies, it cut errors by 54% and significantly boosted overall quality. Here’s how… genome.cshlp.org/content/35/7...

🎉 Big milestone for our sister consortium, SMaHT! Congrats on the paper in Nature, this is a huge step in mapping somatic variation!

Long- and short-read sequencing reveal four key telomere repeat changes shaping cancer genome evolution, offering a new model to study complex repetitive elements in somatic genomes. Uncover the research behind it: www.cell.com/cell-genomic...

See how HPRC is progressing… From the first draft in 2023 to an expanded and refined collection in 2025, with a comprehensive release planned for 2026. View the full release timeline: humanpangenome.org/release-time...

Innovative tools and data shaping the future of lung research are here. The expanded LungMAP portal connects multi-omics, imaging, and pathology data across species, enabling deeper insight into lung development and disease. Explore the resource: pmc.ncbi.nlm.nih.gov/articles/PMC...

HPRC Associate Members have the unique opportunity to work collaboratively to advance human genomics. From researchers to industry partners, HPRC welcomes additional academic and organizational participation! Learn more about our Associate Members: humanpangenome.org/associate-me...

This upcoming #WorldEnvironmentDay, we’re reflecting on how HPRC’s work contributes to a more sustainable future. By deepening our understanding of human genetic variation, we’re supporting better outcomes and helping move toward more efficient, targeted healthcare.🌱🌍

A new method helps recover abundant, but frequently overlooked microbial genomes, even with HiFi reads. Bringing us one step closer to complete metagenomes. Uncover the science behind it: genomebiology.biomedcentral.com/articles/10....