This article appeared in the January/February 2022 issue of Discover magazine as "Finishing the Human Blueprint." Become a subscriber for unlimited access to our archive.
At long last, scientists have declared “mission accomplished” on the complete sequencing of the human genome — one of the most ambitious research undertakings of the past few decades. The news may trigger déjà vu: Scientists with the Human Genome Project first announced they had sequenced the human genome in 2003.
That initial effort came with some notable omissions, though. A sizable chunk of the genome remained inaccessible, the era’s technology unable to parse more complex DNA regions. Though additional work added more clarity, around 8 percent of the human genome remained a mystery — until this year, when an international collaboration called the Telomere-to-Telomere (T2T) Consortium filled the gaps.
Many of these tricky regions include long stretches of highly repetitive DNA sequences. Though they ...
