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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: 0) by Anonymous Coward on Sunday July 30 2017, @06:23PM (3 children)
It is like the "average man", such an entity does not exist and optimizing for him is a mistake. Likewise, it is extremely unlikely that anyone contains a cell with a sequence that matches what they call "the human genome" exactly.
(Score: 2) by HiThere on Sunday July 30 2017, @07:04PM (2 children)
I thought Craig Venter had loads of cells that matched the sequence he described. (Yeah, it's not 100%, but I'm not convinced the areas with lots of repeats are that important...certainly not the precise number of repeats.)
P.S.: Someone earlier said "the human genetic machinery can copy those regions", but they were a bit wrong. Copies of those regions tend to have lots of errors in the number of copies...but nobody's found any real link between that and any actual effect. Perhaps there's a link between the number of teleomers and aging, but that's not a long repeat. Neither its the one involved in Huntington's disease. Those are short repeats, and they frequently *are* significant.
Javascript is what you use to allow unknown third parties to run software you have no idea about on your computer.
(Score: 1, Insightful) by Anonymous Coward on Sunday July 30 2017, @08:22PM
If a non-repetitive region is flanked by regions which are repetitive, you'll have to go through quite some hoops to obtain the sequence of that region. It takes time and money. And, you might obtain let's say 99.5% of all the sequences, but connecting them into the full sequence is another problem.
As for the telomeres, they are not the only repetitive sequences. 10 times an 'A' in an intron can really mess up your sequencing progresses in a single gene (own experience).
The statement "the human genetic machinery can copy those regions" might be true, but many of the polymerases in an organism are not used in sequencing.
(Score: 0) by Anonymous Coward on Sunday July 30 2017, @08:23PM
If you have 6 billion basepairs with 1 in 100 million indel and 1 in 100 chromosomal missegregation rates it is extremely unlikely any two cells will have exactly the same sequence.