A consortium of researchers announces it’s finally sequenced the complete genome, uncovering more than 100 new genes.
This article appeared in the January/February 2022 issue ofAt 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.
Many of these tricky regions include long stretches of highly repetitive DNA sequences. Though they often don’t code for proteins, the body’s building blocks, these sequences likely contain important clues to understanding rare genetic diseases, says Karen Miga, a satellite DNA biologist at the University of California, Santa Cruz. The sections might also alter what is known about the basics of human biology, such as cell division.
Initially, scientists used the so-called “shotgun sequencing” technique. It broke longer DNA sequences into small, overlapping pieces that computer algorithms sometimes struggled to stitch back together. Today, more advanced methods empower geneticists to read sequences that measure hundreds of thousands of base pairs in length, with an occasional length in the millions. That allowed them to “thread through and resolve some of these trickier bits,” says Miga, who helped lead the recent project.
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