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