CNN reports:

In 2003, the Human Genome Project made history when it sequenced 92% of the human genome. But for nearly two decades since, scientists have struggled to decipher the remaining 8%. Now, a team of nearly 100 scientists from the Telomere-to-Telomere (T2T) Consortium has unveiled the complete human genome — the first time it’s been sequenced in its entirety, the researchers say.

“Having this complete information will allow us to better understand how we form as an individual organism and how we vary not just between other humans but other species,” Evan Eichler, a Howard Hughes Medical Institute investigator at the University of Washington and the research leader, said Thursday.

The new research introduces 400 million letters to the previously sequenced DNA — an entire chromosome’s worth. The full genome will allow scientists to analyze how DNA differs between people and whether these genetic variations play a role in disease.

The research, published in the journal Science on Thursday, was previously in preprint, allowing other teams to use the sequence in their own studies.

Until now, it was unclear what these unknown genes coded.

“It turns out that these genes are incredibly important for adaptation,” Eichler said. “They contain immune response genes that help us to adapt and survive infections and plagues and viruses. They contain genes that are … very important in terms of predicting drug response.” [Continue reading…]