Despite what you’ve heard, human genome is not completely sequenced

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The feat made headlines around the world: “Scientists Say Human Genome is Complete,” the New York Times announced in 2003…There was one little problem.

“As a matter of truth in advertising, the ‘finished’ sequence isn’t finished,” said Eric Lander, the director of the Broad Institute of MIT and Harvard.

“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….

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Perhaps nobody paid much attention because the missing sequences didn’t seem to matter. But now it appears they may play a role in conditions such as cancer and autism.

Most of the unsequenced regions, [Church] said, “have some connection to aging and aneuploidy” (an abnormal number of chromosomes such as what occurs in Down syndrome). Church estimates 4 percent to 9 percent of the human genome hasn’t been sequenced.

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“As new sequencing technology has begun allowing scientists to peek into unsequenced territory, however, they have seen that “these tough-to-sequence regions frequently have important genes,” said Michael Hunkapiller, chairman and CEO of Pacific Biosciences, which makes DNA sequencers.

“Finish the sequence!” hasn’t become a rallying cry, but maybe it should be, genomics luminary Craig Venter said.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Psst, the human genome was never completely sequenced. Some scientists say it should be

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