Scientists sequence the human genome: Here’s the most complete mapping ever

A team of nearly 100 scientists, part of the T2T Consortium, has successfully sequenced the most complete human genome ever. The Human Genome Project, which ended in 2003, was able to sequence only 92 percent of the human genome, but the insufficient technology at that time left the remaining 8 percent for the next years.

In Science magazine In the published article, T2T Consortium explained how it managed to fill almost all the missing spots. Research leader Evan Eichler of the University of Washington likened DNA sequencing to solving a jigsaw puzzle. “Scientists have to cut DNA into tiny bits and then use sequencing machines to put them together,” Eichler said. explained in his words.

After a long process, the human genome was mapped in its most complete form

To make the process less complicated, the team added the sperm to its own set of chromosomes. used a cell line from a failed pregnancy called a mole, in which she got into an egg that didn’t have one. This means the team sequenced only one DNA sequence instead of two. Next, a technique called Oxford Nanopore was used to complete the centromere groups in the middle of the chromosomes. Oxford Nanopore has a relatively higher error rate than PacBio HiFi technique. For this reason, the Oxford Nanopore technique is not ideal for sequencing repetitive DNA segments. For these regions, the team used another technique called PacBio HiFi, which can sequence shorter segments with 99.9 percent accuracy.

Eichler said previously unknown genes consist of immune genes that help us get rid of plague and viruses, genes that help predict a person’s response to drugs, and genes responsible for making the human brain larger than that of other primates. “Having this complete information will allow us to better understand how we formed as an individual organism and how we differ not only among other humans but among other species,” Eichler said. said.