Human Pangenome Reference Consortium

The Human Pangenome Reference Consortium (HPRC) is a project funded by the National Human Genome Research Institute to sequence and assemble genomes from individuals from diverse populations in order to better represent the genomic landscape of diverse human populations.

HPRC Insights & Data Hub

We have released a new high-quality collection of reference human genome sequences that includes genome sequences of 47 people, with the goal of increasing that number to 350 by mid-2024.

Link to Publications:
A draft human pangenome reference;
Increased mutation rate and gene conversion within human segmental duplications;
Recombination between heterologous human acrocentric chromosomes;
Pangenome graph construction from genome alignment with minigraph-cactus.
Gaps and complex structurally variant loci in phased genome assemblies.



We Need More Than One Human Reference Genome

No single genome can represent the diversity in the human population. Using a single reference genome creates reference biases, adversely affecting variant discovery, gene–disease association studies and the accuracy of genetic analyses.

The HPRC was started to help migrate common genomic analysis to use a pangenome so diverse populations are better represented.

What are we doing

Sequencing from diverse set of samples with the newest, long read, technologies
Creating and releasing high-quality assemblies and pangenomes
Creating and releasing high-quality assemblies and pangenomes
Embedding a team of scholars to address ethical, legal and social implications (ELSI) of the HPRC’s work

Milestones

Year1
47
47
47

Current Production
100+
100+
Next Round

Completion
350+
350+
Usable Mature

Collaboration Map