The first draft of a human pan-genome reference, representative of as many as possible of the DNA sequences found in all humans, is published in the journal Nature.

The human reference genome has been the backbone of human genomics since its publication in 2001. However, it cannot represent the wealth of genetic variation present in human populations.

In four publications, a consortium of researchers (the Human Pangenome Reference Consortium) presents the first draft human pangenome reference and findings from two studies using this reference as a basis for new genetic research.

The research combines genetic material from a population of 47 genetically diverse individuals and adds 119 million base pairs and 1,115 gene duplications to the current human reference genome. Using this blueprint increased the number of structural variants detected by 104% compared to the reference genome, providing a more comprehensive picture of the genetic diversity in the human genome.

Each person’s genome differs by an average of 0.4% compared to the next person, and understanding these differences can provide information about their health, help diagnose disease, predict medical outcomes, and guide treatments.

These results are only an intermediate stage, as the goal is to record the genetic diversity of 350 individuals.