Human Pangenome Reference Consortium
The Human Pangenome Reference Consortium (HPRC) is a project funded
by the National Human Genome Research Instititue to sequence and
assemble genomes from individuals from diverse populations in order
to better represent genomic landscape of diverse human populations.
We have released a new high-quality collection of reference human genome sequences that includes genome sequences of 47 people, with the 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.
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
