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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 maxwell demon on Sunday July 30 2017, @03:10PM (2 children)
Wrong.
Paragraph 1 summary: 2003 headlines declared the human genome sequencing to be completed.
Paragraph 2 summary: Small problem here.
Paragraph 3 summary: Eric lander says, it isn't.
Paragraph 4 summary: So does Craig Venter.
Paragraph 5 summary. And George Church says so, too.
Paragraph 6 summary: And if you look closely, even the NIH admits it.
Paragraph 7 summary: Estimates of how much is missing range from 4 to 9 percent.
So while you are right that there's a lot of redundancy, it's not quite as bad as you claim.
The Tao of math: The numbers you can count are not the real numbers.
(Score: 0, Offtopic) by JNCF on Sunday July 30 2017, @03:29PM (1 child)
I'm not skipping straight to the comments so that I can read a summary of the summary,, guise; get back to trolling and pedantism!
(Score: 2) by maxwell demon on Sunday July 30 2017, @04:12PM
And I guess you've also not yet figured out what the "Parent" link does, right?
The Tao of math: The numbers you can count are not the real numbers.