Successfully decoding the complete sequence of the human genome for the first time

Artwork: sundayvision.co.ug

Scientists have published the first complete, gap-free sequence of the human genome – 20 years after the Human Genomes project produced the first draft of the human genome sequence.

The study was published in a six-page report published in the journal Science March 31st. Having a complete, gap-free sequence of about 3 billion characters in human DNA is extremely important, the researchers say, because it could help scientists understand the entire genome. prevalence in humans, as well as understanding the elements of the genetic rules for certain diseases.

The work of scientists from the Telomere to Telomere Corporation (T2T), this study is considered an open, community-based effort to create the complete human genome for the first time.

The research team includes scientists from the US National Human Genome Research Institute (NHGRI), the University of California at Santa Cruz and the University of Washington in Seattle, led by scientist Evan Eichler – professor in the department of science in genetics from the University of Washington – first.

In 2003, the Human Genome project made history by sequencing up to 92% of the human genome. However, scientists have struggled to decode the remaining 8% of the human genome for nearly 20 years due to the complex nature of the study subject.

According to the NHGRI, the remaining 8% consists of many genes and repetitive DNA, about the same size as an entire chromosome. The new study used a human cell line with only one copy of the chromosome to sequence genes, instead of using standard human cells, which carry two copies of each chromosome, one copy of the mother and a copy of the father.

The researchers note that most of the newly added DNA sequences are located near the ends of repetitive chromosomes.

According to NHGRI, the now complete human genome sequence will be particularly valuable for studies that aim to establish a holistic view of how the human genome or DNA varies from person to person.

Eric Green, director of NHGRI, said: “Creating a complete human genome sequence is truly an amazing scientific achievement, providing our first comprehensive look at the drawing of DNA. This background information will strengthen ongoing efforts to understand all the functional nuances of the human genome, thereby supporting genetic studies of human disease.”

Meanwhile, T2T Group co-chairman Adam Phillippy said the discovery will help reduce costs and simplify sequencing of the entire human genome in the coming years.

“In the future, when someone has their genome sequenced, we will be able to identify all the variations in their DNA and use that information to guide care,” he said. their health is better.

Truly completing the human genome sequence is like wearing a new pair of glasses. Now we can see things more clearly, one step further to understand the meaning of the subject.”

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