When the pandemic hit, the pace of research only accelerated, with researchers reaching out from filthy basements on Slack communications platform and Over Zoom calls.
“2020 was a crazy year for so many reasons. It gave us something to focus on,” Felipe said.
In the end, the researchers synthesized the entire genetic code for a single copy of the genome. This genome – which was derived decades ago from cell tissue containing the genetic information of a single sperm – does not represent any human who has ever lived because it contains only one set of paternal chromosomes.
The completed code will now form the backbone of new genetic research, and become a new definitive reference for comparison.
theory and practice
A completed genome opens up new avenues of research.
For decades, scientists have been populating 92 percent of the available genome, looking to find genetic variations that can cause diseases.
“We have a pretty good understanding of what the difference looks like in those areas, but we have no idea what the other eight percent are,” Felipe said.
Now, the researchers are re-analyzing their old data against the new reference genome, in an effort to elicit new clues from what was missing.
“We identified a lot more, tens of thousands, if not hundreds of thousands, of new variants,” Dennis said. “Some are located within the genes that encode proteins and some of these genes are medically important, clinically important, and contribute to disease.”
The new genome reference also allows further study of how centromeres function.
Centromeres are structures in the middle of chromosomes filled with repetitive sequences of codons and integral to the process of cell division. They are historically among the least understood parts of the genome because they contain so much boring and dense coding.
“We don’t understand the mechanism behind the evolution of the central planets,” Henikov said. “Suddenly in the last year as the data came out, we learned a lot about the central planets.”
Using the new genome, researchers can study how centromere proteins are best assembled and what happens when they change or lose function.
“Centromere dysfunction can be a serious driver of cancer,” Henikov said. So far, “We’ve been held back because we didn’t have a reference sequence.”
Further study of the newly sequenced parts of the genome could also help scientists better understand how humans developed certain traits, such as larger brains that sent them down a genetically different path than their great ape ancestors.
“The things that make our frontal cortex bigger come from genes that map in these repeat regions,” said Evan Eichler, a professor in the Department of Genomics at the University of Washington School of Medicine, who is also part of the research collaboration.
The researchers said advances in genetic sequencing technology could lead to a renaissance of medical breakthroughs.
“I’m even more excited about what we don’t know and the opportunities for discovery,” Mega said.
Felipe said his next goal is to simplify the sequencing process to make it cheaper, more efficient, and widely available. It also plans to sequence the genetic code with the paternal and maternal chromosomes. He said that large-scale sequencing among people of many backgrounds would help describe the world’s genetic diversity and identify important genetic differences.
He envisions a world in which everyone has access to their own genetic data, which can help provide individualized information about which diseases doctors should monitor or which drugs to prescribe.
“In 10 years, having a completely accurate and complete human genome will be a routine part of health care and cheap enough that it wouldn’t be a second idea — a lab test under $1,000,” Felipe said. “You will have the complete genome in your pocket.”
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