1st draft of a human 'pangenome' published, adding millions of 'building blocks' to the human reference genome

Originally published by Stephanie Pappas on May 10, 2023
published
A new version of the human reference genome incorporates genetic data from 47 individuals from around the globe, deepening scientists' view into how genes work.
 
 
A new human reference "pangenome" includes DNA data from 47 people. (Image credit: Darryl Leja, NHGRI)

Scientists have published the first human "pangenome" — a full genetic sequence that incorporates genomes from not just one individual, but 47. 

These 47 individuals hail from around the globe and thus vastly increase the diversity of the genomes represented in the sequence, compared to the previous full human genome sequence that scientists use as their reference for study. The first human genome sequence was released with some gaps in 2003 and only made "gapless" in 2022. If that first human genome is a simple linear string of genetic code, the new pangenome is a series of branching paths.

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