Member-only story
The entire human genome figured out — But it’s not over yet.
Twenty-one years after the historic reading of the human genome, we know 100 percent of its contents. Now scientists are making plans to develop a pangenome — a collection of information about all the variants and mutations that occur in all humans.
To those following the sequencing of the genomes of humans and other living organisms, it might have seemed that after the epochal achievement of Celera Genomics and the International Human Genome Sequencing Consortium in 2001, the human genome held no more secrets. They were wrong. That first draft was supplemented many times. And the Genome Reference Consortium made the most important corrections in 2013 and 2019.
Yet still unread were very difficult to sequence fragments of heterochromatin, the maximally condensed regions of human DNA. These unknown sequences made up as much as 8 percent of the entire genome and were mainly located in the so-called telomeric regions, i.e. at the ends of individual chromosomes. Now, thanks to a publication from bioRxiv, whose lead author is Professor Evan E. Eichler of the University of Washington School of Medicine in Seattle, we are learning about their decipherment.
