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The New York Times: Scientists Finish the Human Genome at Last

genomics lab

By Carl Zimmer

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.

The Human Genome Project was an audacious undertaking, given how much there was to sequence. Scientists knew that the twin strands of DNA in our cells contained roughly three billion pairs of letters — a text long enough to fill hundreds of books.

Researchers were left to put them together like the pieces of a vast jigsaw puzzle. To assemble the puzzle, they looked for fragments with identical ends, meaning that they came from overlapping portions of the genome. It took years for them to gradually assemble the sequenced fragments into larger swaths.

All told, the scientists added or fixed more than 200 million base pairs in the reference genome. They can now say with confidence that the human genome measures 3.05 billion base pairs long.

Within those new sequences of DNA, the scientists discovered more than 2,000 new genes. Most appear to be disabled by mutations, but 115 of them look as if they can produce proteins — the function of which scientists may need years to figure out. The consortium now estimates that the human genome contains 19,969 protein-coding genes.

With a complete genome finally assembled, the researchers could take a better look at the variation in DNA from one person to the next. 

“It’s a great advance for the field,” said Dr. Midhat Farooqui, the director of molecular oncology at Children’s Mercy, a hospital in Kansas City, Mo., who was not involved in the project.

Dr. Farooqi has started using the genome for his research into rare childhood diseases, aligning DNA from his patients against the newly filled gaps to search for mutations.


Read the full article via The New York Times

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