Communications of the ACM
Scientists Finish Decoding Last 8% of Human Genome
The new reference genome adds hundreds of millions of base pairs to earlier drafts, filling in some crucial gaps that will improve studies of disease and evolution.
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An international team of 99 researchers completed the decoding of the final 8% of the human genome, thanks to technological improvements and a better understanding of genomics than existed 20 years ago.
The Howard Hughes Medical University's Erich Jarvis said commercially available algorithms can correctly assemble as much as 98% of the human DNA sequence, "but the remaining 2% still has errors in it," which is why his colleague Giulio Formenti developed an algorithm "to clean up the last remaining 2%."
Bioinformatician Adam Phillippy said, "Truly finishing the human genome sequence was like putting on a new pair of glasses. Now that we can clearly see everything, we are one step closer to understanding what it all means."
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