A fantastic turnout for HPRC's workshop at #ASHG2026! Thank you to everyone who joined us to learn more about the Human Pangenome Release 3 and its data, tools, applications, and path forward.

HPRC hosts The Human Pangenome Release 3: Data, Tools, Applications, and Ethics tomorrow morning at #ASHG2026. Learn what the workshop will cover, from pangenome data and variant-calling tools to population genetics and ethical data governance. Workshop details: www.ashg.org/product/ashg...

ASHG 2026 The Human Pangenome Release 3: Data, Tools, Applications, and Ethics

Saturday, October 24: 8:15 AM - 10:15 AM Pricing: $50 ASHG member, $65 nonmember. Registration and advance ticket purchase required to attend. *Per our policies, add-ons (ticketed events, CEUs, and a...

ashg.org

ASHG 2026 is in full swing! HPRC members will be sharing their research throughout the meeting. Check out the schedule below for more information on HPRC member presentations.

Using low-coverage DNA sequencing and potentially expanding screening options, researchers developed a method to detect Robertsonian translocations, chromosome changes linked to fertility challenges and increased cancer risk. Read the preprint: www.biorxiv.org/content/10.6...

Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes

Balanced Robertsonian translocation (ROB) is the most common chromosomal rearrangement in humans, with an estimated occurrence of 1 in 800 in newborn studies. Carriers are at increased risk of cancer ...

biorxiv.org

ASHG 2026 is just one week away! HPRC members will be presenting their research throughout the meeting. Stay tuned for more details to help you plan your time at ASHG and connect with HPRC.

A recent study uses the human pangenome and comparative genomics to identify DNA changes that may underlie human-specific traits, including language and hair reduction. The findings offer new ways to study human evolution and disease risk. Read the preprint: www.biorxiv.org/content/10.6...

Fixed human pangenome sequences reveal origins of common human traits

Humans possess human-specific traits[1][1],[2][2] such as spoken language and lineage-specific traits such as ape-specific taillessness[3][3],[4][4]. Previous efforts to identify the DNA sequences res...

biorxiv.org

HPRC developed its consent document through a 3-year collaboration among scientific, ethical, legal, and community experts. It prioritizes transparency and informed participation, with language designed to be clear and accessible. Read the full document: humanpangenome.org/consent/

Shredtools is making it easier to explore regions across a pangenome by quickly finding matching genomic regions across hundreds of genomes. The tool can identify a gene region across 476 human genomes in approximately half a second.  Read more: www.biorxiv.org/content/10.6...

Navigating the pangenome coordinate system with Shredtools

Existing notions of pangenome coordinates rely on hard-to-compute multiple sequence alignments. On the other hand, pangenome-wide exact unique matches (multi-MUMs) can be computed efficiently, and rep...

biorxiv.org

The Resource Improvement and Maintenance Working Group evaluates the pangenome’s quality, develops QC approaches, and helps define stable reference releases. Explore this and other HPRC working groups: humanpangenome.org/working-grou...

This study shows how CRISPRa can recreate transcriptional states seen in cell atlases, helping identify their regulators and functions.  The approach reveals factors linked to universal and disease-associated states, advancing functional and therapeutic research.  www.nature.com/articles/s41...

Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states - Nature Genetics

CRISPR activation of 1,836 human transcription factors recapitulates fibroblast transcriptional states observed in vivo and identifies regulators that can revert inflammatory states.

nature.com

A varied, high-quality human reference is key to understanding genetic variation.  HPRC is expanding sampling beyond 1000 Genomes to build a richer, more complete reference that can advance disease research. Learn more: www.humanpangenome.org/samples

Pangenome coordinates can be complex... Shredtools offers a new approach using exact matches to query pangenome data efficiently. Its tools can extract syntenic regions across hundreds of genomes, making pangenome-scale exploration more accessible. pubmed.ncbi.nlm.nih.gov/42465356/

Navigating the pangenome coordinate system with Shredtools - PubMed

Existing notions of pangenome coordinates rely on hard-to-compute multiple sequence alignments. On the other hand, pangenome-wide exact unique matches (multi-MUMs) can be computed efficiently, and represent conserved stretches of columns in the underlying MSA. We introduce Shredtools, which uses mul …

pubmed.ncbi.nlm.nih.gov

Explore HPRC data! The HPRC Data Explorer provides access to sequencing data from across the consortium, supporting research into human genetic variation and the development of a more complete pangenome reference. Explore the data: data.humanpangenome.org/raw-sequenci...

Explore the HPRC YouTube channel for educational videos, Q&As, and a closer look at the people and work behind the Human Pangenome Reference Consortium. ▶️ Watch on YouTube⁠: www.youtube.com/@HumanPangen...

Human Pangenome Reference Consortium

youtube.com

Transparency is central to HPRC. Our consent process was developed through years of collaboration with scientists, ethicists, legal experts, and community representatives to support informed participation. Learn more: humanpangenome.org/consent/

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...

vimeo.com

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...

biorxiv.org

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...

sites.google.com

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

youtu.be

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/