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LiveScience
LiveScience
Stephanie Pappas

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

An illustration of the globe ribbons of bright color wrapped around it, representing the newly drafted human pangenome

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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