Scientists map a full human genome for the first time, including previously hard-to-read ‘junk DNA’ that could contain clues about conditions from autism to aging

• Scientists have produced the first gap-free sequencing of the human genome.
• The Telomere-to-Telomere Consortium formally published their findings Thursday. 
• Advancements in technology allowed the group to sequence the newly-uncovered segments.

It’s all here — the human genome, that is. 

Scientists announced Thursday they have mapped the human genome with no gaps for the first time — 19 years after the Human Genome Project completed an “essentially finished” version. 

A group of about 100 scientists, the Telomere-to-Telomere (T2T) Consortium, was able to publish the “most complete human genome yet,” Elizabeth Pennisi wrote in an introductory article to the project in the journal Science.

Their findings were first announced in 2021, but this week marks the formal publication of the research. 

The original sequence did not include about 8% of the human genome, primarily because the technology available at the time was not reasonably able to decode it, according to researchers from the project.

Some called it “junk DNA,” but other researchers over the years found evidence it could contain clues about issues from autism to aging to otherwise unexplainable diseases, experts told Stat in 2017.

According to Eric Lander, who led the original research team, it was hard to decode certain portions of the genome because when computers read DNA, they essentially take apart a puzzle and see which pieces match up. But “junk DNA” areas were often very repetitive, so if pieces of the puzzle are too similar, it’s hard to match them.

Now, new computing power means that “our puzzle pieces just got way bigger, and that allowed us to put these regions of the genome back together again,” Adam Phillipy of the National Human Genome Research Institute, who helped with the project, said according to the BBC.

The new reference genome could help scientists figure out which genes contribute to various disorders, why certain cells become cancerous, and more variations from person to person, such as tolerance for high altitude, NBC wrote.

It could also be a step closer to everyone having easy-breezy access to their own genome, Phillipy told NBC. 

“Within 10 years, getting a complete, perfectly accurate human genome will be a routine part of health care and it will be cheap enough that it won’t be a second thought — an under $1,000 lab test,” he told the outlet. “You’ll have the complete genome in your pocket.”

Gene editing technology has also been hot territory for biotech startups of late, such as Mammoth Biosciences, which has developed a new enzyme for making more precise changes to DNA.

While this has been an enormous leap, there’s still more to discover, said Karen Miga, one of founders of the Telomere-to-Telomere Consortium.

“Our work is not done. We still have a path ahead that we need to work as a team to complete not only the genome but a panel of genomes that better represent genetic and genomic diversity around the world,” she said in a video accompanying the announcement.