Researchers have long known that all humans are 99.9% identical, genetically speaking. But that tiny 0.1% variation has big consequences, influencing the color of your eyes, the span of your hips, and your risk of getting sick.
Although variants are scattered throughout the genome, scientists have largely ignored the stretches of repetitive genetic code once dismissively known as “junk” DNA in their search for differences that influence human health and disease. Now, new research shows that variation in these overlooked repetitive regions may also affect human health. /…/
Even though the sequence of the human genome was declared complete more than a decade ago, it retains several glaring gaps, especially in the repetitive sequences around centromeres, the twisty ties that hold a pair of chromosomes together in a floppy X shape and coordinate their movement during cell division.
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