It took more than 20 years, but scientists finally held all human genomes. A new study published in science reveals what looks like 8% of the lost human genome. Scientists celebrate the findings, noting that they now have a complete view of information that can be used for breakthroughs in human health.
A team led by researchers from the National Human Genome Research Institute (NHGRI), University of California – Santa Cruz, and the University of Washington, doing work as a telomere consortium to Telomere (T2T).
As explained by the News Medical Life Science, although human DNA was first isolated in 1869, true progress in genomics did not start until the 1970s, made the field of discipline relatively new. In 1990, the human genome project (HGP), was dubbed as one of the greatest exploration achievements in history, taking the challenge of holding the human genome. An international team of researchers began to sort and map more than 3 billion DNA letters. In 2003, the map was “concluded,” but it was incomplete.
The complete sequence
A new paper, entitled “Complete Order of the Human Genome,” explained the genome released in 2000 only included the euchromatic fraction of the genome, and left an important heterochromatic area that was not finished. The difference between euchromatic and heterochromatic areas is that the first is packed with lightweight and can be accessed for transcription, while others are very compressed and difficult to explore.
“It turns out these genes are very important for adaptation,” Evan Eichler, the investigation of Howard Hughes medical institutions at Washington University and research leaders from the study (through CNN). “They contain genes of immune responses that help us to adapt and survive and plague and viruses. They contain genes … very important in terms of predicting drug responses.”
Scientists reveal that by handling heterochromatic areas, the map now has a sequence of basic pairs of 3.055 billion. This includes gaps in assemblies for all chromosomes except Y and around 200 million new base pairs are introduced. The study also corrected errors in previous references. According to paper, a complete map opens “Genome complex areas for variation and functional studies”.
The future of healthcare
New information presented by this research is valuable because it reveals human genomic variations and how DNA differs between people. It is very important to understand the role of genetic differences in certain diseases. The team imagines using genome sequences as routine care in future clinical care.
“Since we have the order of the first human genome draft, determining the exact sequence of the complex genome area has been challenging,” said Eichler. “I am happy that we complete the job. Complete blueprints will revolutionize the way we think about human genomic variations, diseases, and evolution.”
“Really completed the order of the human genome like wearing new glasses. Now we can clearly see everything, we step closer to understanding what it means,” Adam Phillippy, Ph.D. and chairman with the consortium, said.