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from the how-do-you-know-how-much-you-don't-know? dept.
The feat made headlines around the world: "Scientists Say Human Genome is Complete," The New York Times announced in 2003. "The Human Genome," the journals Science and Nature said in identical ta-dah cover lines unveiling the historic achievement.
There was one little problem.
"As a matter of truth in advertising, the 'finished' sequence isn't finished," said Eric Lander, who led the lab at the Whitehead Institute that deciphered more of the genome for the government-funded Human Genome Project than any other. "I always say 'finished' is a term of art."
"It's very fair to say the human genome was never fully sequenced," Craig Venter, another genomics luminary, told STAT.
"The human genome has not been completely sequenced and neither has any other mammalian genome as far as I'm aware," said Harvard Medical School bioengineer George Church, who made key early advances in sequencing technology.
[...] FAQs from the National Institutes of Health refer to the sequence's "essential completion," and to the question, "Is the human genome completely sequenced?" they answer, "Yes," with the caveat — that it's "as complete as it can be" given available technology.
[...] Church estimates 4 percent to 9 percent of the human genome hasn't been sequenced. Miga thinks it's 8 percent.
https://www.statnews.com/2017/06/20/human-genome-not-fully-sequenced/
I'm glad this is finally getting some coverage. A few years ago I looked into the human genome to prove to myself it didn't contain a certain sequence, and found this was impossible since ~10% of it was missing. When they talk about "sequencing a genome" it is total false advertising.
(Score: 2) by Immerman on Monday July 31 2017, @01:39PM
>the question would arise what 100% human (or for almost any other organism) would mean
Quite. If for example if w were to assume that 95% of DNA were shared identically by 100% of humans, then you might think you could perfectly sequence one person's DNA and get 95% of the human genome. But that's ignoring the fact that 95% shared DNA doesn't mean that you have 95% of the human genome - to know that percentage you need to already know how much variation there is within the remaining 5% - assume an average of only 10 variants per gene, and the variations account for a third of the total genome. And even that is assuming that all differences are variations of an existing gene, rather than entirely new genes that have arisen over the millenia.