DNA data from Africans reveals sequences that we’d missed


Enlarge / The first printout of the human genome to be presented as a series of books, displayed in the ‘Medicine Now’ room at the Wellcome Collection, London.

The human genome sequence, first published in 2001, has some important information missing. The latest version of it, called GRCh38, has a monstrous 3.1 gigabases of information—but that’s still not enough. A letter published in Nature Genetics this week finds that the reference genome is missing a colossal 10 percent of the genetic information found in the genomes of hundreds of people with African ancestry—information that also appears in other human populations.

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The “human genome” is in fact assembled from the genomes of just a handful of people, with the majority of GRCh38 coming from just…

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