It’s about the size of a pack of vending-machine Oreos, costs $1,000, and, although it can’t leap tall buildings, it can do something genomics researchers value much more: The pocket-sized MinION has sequenced a human genome by reading longer strings of DNA than reported for any other device. In doing so, it has filled in 12 gaps in the supposedly completely sequenced (but not really) human genome, scientists said on Monday.
The human genome remains incompletely sequenced, nearly 15 years after the project to do so declared victory, because most sequencing methods can’t decipher certain parts of the 3-billion-bases-long blueprint of heredity. To do so requires reading thousands of bases — the A’s, T’s, C’s, and G’s that constitute the genetic code — in a continuous ribbon.
The sequencing machines from sector-leading Illumina work by hacking up genomes like kale at Chop’t, reading a couple hundred bases at a time, then reassembling the chunks. That’s fine for most purposes. But some stretches of the human genome are monstrously repetitious (the same bases over and over). Short reads can’t figure them out.
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