Human Pangenome Reference

The human reference genome is fundamental to basic, translational and clinical research. However, despite improvements and updates over the 20 years since its completion, it still contains errors and gaps. Further, as a linear sequence, 70% of which were contributed by a single volunteer donor, it is not representative of the genetic diversity between global populations. This Collection brings together primary research articles and related content that describe the ongoing efforts of the Human Pangenome Reference Consortium (HPRC) to build a more complete and more diverse human reference genome. The project works towards solving technological challenges in assembling gapfree diploid genomes, representation of pangenomes and use of pangenomes in downstream application as well as developing a framework to address ethical, legal and social implications (ELSI) to achieve the goal of building a new, more inclusive and complete, human reference genome.