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....

With the support of incredible partner institutions, HPRC is creating a human pangenome reference and resource that represents global genomic variation… One initiative at a time.

How did 1990s policy shape today’s genomics ethics? A recent study traces how early HGP decisions still impact consent, IRBs & efforts like the human pangenome. Uncover the story behind it: www.cell.com/cell-genomic...

Release 2️⃣ data is now available. Access sequencing data, assemblies, and alignments through our interactive data explorer! data.humanpangenome.org

Research highlights how long-read sequencing is helping close the diagnostic gap for rare diseases. Using a nanopore-based pipeline, researchers resolved 11 rare disease cases, uncovering variants and epigenetic changes missed by short-read approaches. www.medrxiv.org/content/10.1...

📢 HPRC Release 2 is here! Now with phased genomes from 200+ individuals, a 5x increase from Release 1. Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️: humanpangenome.org/hprc-data-re...

HPRC is building a reference that better reflects global genomic variation. We're well on our way to advancing assembly technology and tools to power next-gen genomic research!

A promising single-platform alternative to multi-tech T2T workflows. A recent study shows ONT Duplex reads + Pore-C mapping can produce high-accuracy, chromosome-scale genome assemblies. Explore the findings: www.biorxiv.org/content/10.1...

❤️ Our working groups are the heart of HPRC! ❤️ Driving everything from technology and T2T assemblies to ethics, outreach, and pangenome development. Meet the teams shaping the future of human genomics: humanpangenome.org/working-grou...

Severus, a new method advancing variant screening improves somatic structural variant detection using long-read sequencing & a phased breakpoint graph approach. It outperforms existing approaches across multiple datasets, uncovering complex rearrangements. www.medrxiv.org/content/10.1...

How do we define key terms at the Human Pangenome Reference Consortium? Our glossary was crafted specifically for the consortium’s work, ensuring clarity across teams and research. Uncover the full list here: humanpangenome.org/definitions/

CNV genes play a crucial role in evolution & disease but historically have been a challenge to analyze. Ctyper uses HPRC pangenomes to map CNV gene sequences with high accuracy, improving genotyping & disease insights like SMA diagnosis. Uncover the science: www.biorxiv.org/content/10.1...

Collaboration is how we establish and conquer our common goals. April 1-4 in Cambridge, MA, we’re coming together to advance the GA4GH Road Map and shape the future of genomics. We look forward to next week and to fostering partnerships and advancing common goals. 🎉

Novel research uses HPRC pangenome assemblies to uncover complex structural variations (cxSVs) as a central part of human genetic variation. ARC-SV detects cxSVs linked to brain function, evolution, and psychiatric disorders. Uncover the research behind it: www.cell.com/cell/abstrac...

🗓️ The deadline to register for in-person attendance at GA4GH Connect is Wednesday, March 18! Join us April 1-4 in Cambridge, MA to collaborate, share insights, and help shape the future of the GA4GH Roadmap. We’ll see you there! broadinstitute.swoogo.com/connect25bos/

New research introduces Panacus, a pangenome graph tool that quantifies shared sequences and genomic variability across samples. Panacus efficiently processes GFA files and generates interactive visualizations, enabling deeper insights into pangenome growth and core genome size. shorturl.at/Va66Q

GA4GH April Connect 2025 is 31 days away! April 1–4 in Cambridge, MA, join the HPRC along with the GA4GH community in our common goal of advancing the GA4GH Road Map and shaping future developments. In-person registration closes on March 18! broadinstitute.swoogo.com/connect25bos...

The first human genome sequence was created in 2003. The sequence was sourced from a few individuals yet didn't represent all of humanity. HPRC is building a more inclusive reference and capturing the full spectrum of human genetics. Here's our story: vimeo.com/473532397