Scientists are optimistic that having a full image of the human genome would help them better understand human evolution and pave the path for discoveries in neurodegenerative diseases, aging, heart disease, and cancer. Although such breakthroughs are still years away, scientists now have a clear roadmap to work with.
Scientists have finally completed the mapping of the human genome, a project that has taken more than two decades to complete. There’s a legitimate reason for this feeling of déjà vu.
Shortly after the turn of the century, it was widely reported that the human genome had been entirely sequenced. In reality, only approximately 92 percent had been sequenced successfully. Due to technological limits at the time, the remaining 8% of genetic material, which amounted to about 400 million letters, remained a mystery.
Some of the genes that make us distinctively human were found in the missing 8%, according to Evan Eichler, a researcher at the University of Washington who worked on both the new study and the original Human Genome Project.
Karen Miga, a co-author of one of the six papers released this week, described the missing data as “significant and persistent gaps” in “critical areas.”
“It took more than 20 years, but we finally finished it,” Eichler remarked.
The team’s work was first published as a preprint last year, but it has now been peer-reviewed and published in Science.