Human Pangenome Reference Consortium
@humanpangenome.bsky.social
Diverse Human References Drive Genomic Discoveries for Everyone
💡 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...
Fast and precise, it outperforms current pipelines and scales to biobank-sized cohorts.
More at:
www.nature.com/articles/s41...
Locityper enables targeted genotyping of complex polymorphic genes - Nature Genetics
Locityper is a general-purpose genotyper that can efficiently genotype and analyze a diverse set of genes, such as hyperpolymorphic HLA genes, using both short-read and long-read whole-genome sequenci...
www.nature.com
November 19, 2025 at 9:36 PM
💡 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...
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...
Learn more: pmc.ncbi.nlm.nih.gov/articles/PMC...
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
Reference-free genome phasing is vital for understanding allele inheritance and the impact of single-molecule DNA variation on phenotypes. To achieve thorough phasing across homozygous or repetitive regions of the genome, long-read sequencing ...
pmc.ncbi.nlm.nih.gov
November 13, 2025 at 7:24 PM
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...
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
Discover how researchers worldwide are working together to build a more complete reference of human genetic variation.
Learn more at humanpangenome.org
Human Pangenome Reference Consortium
Human Pangenome Reference Consortium
humanpangenome.org
November 5, 2025 at 8:12 PM
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
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!
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
October 31, 2025 at 4:13 PM
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!
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...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Co-opted transposons help perpetuate conserved higher-order chromosomal structures
Transposable elements (TEs) make up half of mammalian genomes and shape genome regulation by harboring binding sites for regulatory factors. These include binding sites for architectural proteins, such as CTCF, RAD21, and SMC3, that are involved in ...
pmc.ncbi.nlm.nih.gov
October 29, 2025 at 7:31 PM
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...
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 ⬇️
HPRC members will be sharing their latest research and insights throughout the week.
See who's presenting ⬇️
October 8, 2025 at 7:02 PM
Next week, we're headed to #ASHG2025!
HPRC members will be sharing their latest research and insights throughout the week.
See who's presenting ⬇️
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
Learn more about our mission: humanpangenome.org
Human Pangenome Reference Consortium
Human Pangenome Reference Consortium
humanpangenome.org
October 2, 2025 at 4:20 PM
🌍 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
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...
Functional studies highlight roles for GPR89B and FRMPD2B in brain expansion and synapse signaling.
Read more in Cell:
www.cell.com/cell/abstrac...
Human-specific gene expansions contribute to brain evolution
A complete human genome and functional modeling in zebrafish pinpoint gene expansions
that may underlie the evolutionary innovations of the human brain.
www.cell.com
September 26, 2025 at 8:26 PM
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...
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!
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!
September 25, 2025 at 8:15 PM
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!
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...
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...
BWT construction and search at the terabase scale
Burrows–Wheeler Transform (BWT) is a common component in full-text indices. Initially developed for data compression, it is particularly powerful for encoding redundant sequences such as pangenome dat...
pmc.ncbi.nlm.nih.gov
September 19, 2025 at 6:41 PM
👣 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...
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
Our story: humanpangenome.org
September 17, 2025 at 7:09 PM
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
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...
Uncover the science behind it: www.biorxiv.org/content/10.1...
Regulatory Transposable Elements in the Encyclopedia of DNA Elements
Transposable elements (TEs) make up about half of the human genome and many have the biochemical hallmarks of tissue- or cell type-specific cis -regulatory elements. While some TEs have been rigorousl...
www.biorxiv.org
September 12, 2025 at 4:43 PM
~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...
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...
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...
ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows
Introducing participants to the new Human Pangenome Reference, how samples were chosen to maximize variation, & technologies used to build the pangenome
www.ashg.org
September 11, 2025 at 2:14 PM
#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...
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...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Lossless Pangenome Indexing Using Tag Arrays
Pangenome graphs represent the genomic variation by encoding multiple haplotypes within a unified graph structure. However, efficient and lossless indexing of such structures remains challenging due t...
pmc.ncbi.nlm.nih.gov
September 5, 2025 at 5:51 PM
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...
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/
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/
Partners
Partners
humanpangenome.org
September 4, 2025 at 1:42 PM
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/
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...
Read more:
academic.oup.com/bioinformati...
Exploring gene content with pangene graphs
AbstractMotivation. The gene content regulates the biology of an organism. It varies between species and between individuals of the same species. Although
academic.oup.com
August 29, 2025 at 4:48 PM
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...
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...
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...
HPRC Data Explorer
data.humanpangenome.org
August 27, 2025 at 6:40 PM
🔍 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...
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...
Uncover the science behind it:
www.biorxiv.org/content/10.1...
Highly accurate assembly polishing with DeepPolisher
Accurate genome assemblies are essential for biological research, but even the highest quality assemblies retain errors caused by the technologies used to construct them. Base-level errors are typical...
www.biorxiv.org
August 22, 2025 at 5:47 PM
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...
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...
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...
ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows
Introducing participants to the new Human Pangenome Reference, how samples were chosen to maximize variation, & technologies used to build the pangenome
www.ashg.org
August 20, 2025 at 4:20 PM
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...
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...
Learn more...
pmc.ncbi.nlm.nih.gov/articles/PMC...
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes
Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, chromosome microarrays). We present the first large-scale whole-...
pmc.ncbi.nlm.nih.gov
August 15, 2025 at 6:56 PM
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...
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-...
🎧 Listen here: www.sciencefriday.com/segments/65-...
65 Genomes Expand Our Picture Of Human Genetics
Researchers closely examined the genomes of 65 individuals to paint a more complex, and more complete, picture of human genetic diversity.
www.sciencefriday.com
August 13, 2025 at 8:31 PM
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-...
🎧 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...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
Reference-free genome phasing is vital for understanding allele inheritance and the impact of single-molecule DNA variation on phenotypes. To achieve thorough phasing across homozygous or repetitive r...
pmc.ncbi.nlm.nih.gov
August 8, 2025 at 8:33 PM
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...
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/
Meet the team behind it: www.humanpangenome.org/elsi-team/
August 6, 2025 at 3:18 PM
🚌 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/
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...
Uncover the hard work behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
WashU Epigenome Browser update 2025
The WashU Epigenome Browser (https://epigenomegateway.wustl.edu/) is a web-based tool for exploring genomic data and providing visualization, investigation, and analysis of epigenomic datasets. Since ...
pmc.ncbi.nlm.nih.gov
August 1, 2025 at 5:18 PM
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...
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...
📅 Oct 14 10AM–12PM | Learn how to access, analyze & work with the pangenome.
Details:
www.ashg.org/product/ashg...
ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows
Introducing participants to the new Human Pangenome Reference, how samples were chosen to maximize variation, & technologies used to build the pangenome
www.ashg.org
July 28, 2025 at 4:04 PM
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...
📅 Oct 14 10AM–12PM | Learn how to access, analyze & work with the pangenome.
Details:
www.ashg.org/product/ashg...