Catch the HPRC panel discussion from the 7th ELSI Congress: Building an Open Genomic Reference Resource - Consent and Participant Perspectives in the Human Pangenome Reference Consortium. Watch here: vimeo.com/1206495017?f...

D4. Building an Open Genomic Reference Resource - Consent and Participant Perspectives in the Human Pangenome Reference Consorti

This is "D4. Building an Open Genomic Reference Resource - Consent and Participant Perspectives in the Human Pangenome Reference Consorti" by ELSIhub by CERA on Vimeo, the home for high quality videos...

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Explore the HPRC Year 2 pangenome graph with Graphoscope. Search a gene or genomic region to visualize the pangenome graph at that locus with no pangenome data or specialized setup required. Try it here: marianattestad.github.io/graphoscope/...

We need more than one human reference genome. Since 2019, HPRC has been working to move beyond the limitations of a single reference by building resources that better capture human genetic variation, bringing us closer to a more complete picture of the human genome.

A new approach to local ancestry inference moves beyond discrete ancestry labels, representing genetic ancestry as a continuous “point cloud” of genomic segments. By capturing ancestry across space & time, the framework offers new insights into human genetic history. www.biorxiv.org/content/10.6...

Point cloud local ancestry inference (PCLAI): continuous coordinate-based ancestry along the genome

Local ancestry inference (LAI) predicts a discrete ancestry label for each segment of an individual’s genome and has become integral to studying population history, genetic variation, and polygenic tr...

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From the first draft to a global resource, HPRC’s release timeline shows how the human pangenome continues to grow in scale, accuracy, and representation. Explore the milestones shaping the future of genomics: www.humanpangenome.org/release-timeline/

Today, July 1, is the last day to register and submit an abstract for the T2T 2026 conference.  Sept. 3–4 in Santa Cruz, CA, join the telomere-to-telomere and pangenomics community!  Learn more: sites.google.com/ucsc.edu/t2t...

T2T - F2F

Please mark your calendars for the Telomere-to-Telomere "Face-to-Face" (T2T-F2F) two-day conference in Santa Cruz, CA Sept 3-4th. Great people, great science, great memories. The meeting will be host...

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July 1 is the deadline to register and submit abstracts for the T2T Face-to-Face 2026 conference! Join the community Sept. 3–4 in Santa Cruz, CA, for two days of science, collaboration, and discussion around telomere-to-telomere genomics. 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 resolved 135 chromosome 22q11.2 haplotypes, revealing structural variation that influences susceptibility to 22q11.2 deletion syndrome and may help explain its reduced prevalence among individuals of African ancestry. Read more: www.nature.com/articles/s41...

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion - Nature Communications

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...

nature.com

📢 Reminder: Registration and abstract submissions for the T2T Face-to-Face 2026 conference close July 1! Join the telomere-to-telomere and pangenomics community Sept. 3–4 at UC Santa Cruz. Abstracts welcome for both talks and posters. Learn more: sites.google.com/ucsc.edu/t2t...

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

What new technologies is HPRC developing, and how are they transforming genomics?

YouTube video by Human Pangenome Reference Consortium

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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...

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...

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

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...

cell.com

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

How Has Being a Part of the HPRC contributed to your career?

YouTube video by Human Pangenome Reference Consortium

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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...

Comprehensive detection of genetic and epigenetic alterations in cancer using long reads with TumorLens

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...

medrxiv.org

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

VDJcraft Tutorial: Analyzing V(D)J Recombination with Long-Read Data

YouTube video by Human Pangenome Reference Consortium

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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

How is HPRC continuing the legacy of the Human Genome Project?

YouTube video by Human Pangenome Reference Consortium

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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

How has collaboration within HPRC helped advance your research?

YouTube video by Human Pangenome Reference Consortium

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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...

A draft UAE-based Arab pangenome reference - Nature Communications

The UAE-based Arab Pangenome Reference (UPR), constructed from 53 high-quality de novo genome assemblies from diverse Arab individuals, reveals 8.94 million population specific variants and 111.96 mil...

nature.com

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?...

The Human Pangenome Reference Consortium (HPRC) Q&A

YouTube video by Human Pangenome Reference Consortium

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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/