Scientist Phillippy Co-Led DNA Completion Because Gaps “Were Just Really Bugging Me”

People with different ways of thinking are better at doing different kinds of work. For instance those who are obsessive/compulsive or have some types of Asperger’s, may be better at careful detailed work that requires perfectionism. (I do not know anything about Phillippy beyond the article quoted below, so I am in no way suggesting that he is an examplar of either of these ways of thinking.)

(p. A10) Two decades after the draft sequence of the human genome was unveiled to great fanfare, a team of 99 scientists has finally deciphered the entire thing. They have filled in vast gaps and corrected a long list of errors in previous versions, giving us a new view of our DNA.

. . .

In 2019, two scientists — Adam Phillippy, a computational biologist at the National Human Genome Research Institute, and Karen Miga, a geneticist at the University of California, Santa Cruz — founded the Telomere-to-Telomere Consortium to complete the genome.

Dr. Phillippy admitted that part of his motivation for such an audacious project was that the missing gaps annoyed him. “They were just really bugging me,” he said. “You take a beautiful landscape puzzle, pull out a hundred pieces, and look at it — that’s very bothersome to a perfectionist.”

Dr. Phillippy and Dr. Miga put out a call for scientists to join them to finish the puzzle. They ended up with 99 scientists working directly on sequencing the human genome, and dozens more pitching in to make sense of the data. The researchers worked remotely through the pandemic, coordinating their efforts over Slack, a messaging app.

. . .

Dr. Altemose plans on using the complete genome to explore a particularly mysterious region in each chromosome known as the centromere. Instead of storing genes, centromeres anchor proteins that move chromosomes around a cell as it divides. The centromere region contains thousands of repeated segments of DNA.

In their first look, Dr. Altemose and his colleagues were struck by how different centromere regions can be from one person to another. That observation suggests that centromeres have been evolving rapidly, as mutations insert new pieces of repeating DNA into the regions or cut other pieces out.

While some of this repeating DNA may play a role in pulling chromosomes apart, the researchers have also found new segments — some of them millions of bases long — that don’t appear to be involved. “We don’t know what they’re doing,” Dr. Altemose said.

But now that the empty zones of the genome are filled in, Dr. Altemose and his colleagues can study them up close. “I’m really excited moving forward to see all the things we can discover,” he said.

For the full story, see:

Carl Zimmer. “Scientists Have Finally Filled in All the Gaps in the Human Genome.” The New York Times (Saturday, July 24, 2021): A17.

(Note: ellipses added.)

(Note: the online version of the story was updated July 26, 2021, and has the title “Scientists Finish the Human Genome at Last.”)

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