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When Wellcome Sanger Institute geneticist Eugene Gardner set out to look for a specific type of genetic mutation in a massive database of human DNA, he figured it’d be a long shot. Transposons—also known as jumping genes because they can move around the genome—create a new mutation in one of every 15 to 40 human births, but that’s across the entire 3 billion base pairs of nuclear DNA that each cell carries. The sequencing data that Gardner was working with covered less than two percent of that, with only the protein-coding regions, or exons, included. Doing a quick calculation, he determined that, in the best-case scenario, he could expect to find up to 10 transposon-generated variants linked to a developmental disease. And “we really might get zero,” he says. “This whole thing might be for naught.”
But Gardner had recently developed the perfect tool to find ...
