In a significant scientific breakthrough, researchers on Friday claimed to have successfully deciphered a fully complete human genome.
The completed genome is presented in a series of papers published online on March 31 in Science and Nature Methods.
The compilation of the complete human genome was made possible due to the combined efforts of leading scientists from the University of Washington in Seattle, USA. They worked in a team called Telomere-to-Telomere Consortium.
A genome is the storehouse of the complete genetic information of an organism or individual. It is situated inside long molecules of DNA called chromosomes. A genome contains all of the information required by a particular organism to function.
Researchers have claimed the completion of the human genome in the past as well. However, on vetting, they turned out to be only incomplete drafts.
“We really mean it this time,” says Evan Eichler, a human geneticist at the University of Washington.
He said that this time, a team of international researchers used a new DNA sequencing technology to untangle repetitive stretches of DNA that were redacted from an earlier version of the genome.
“Some of the missing regions actually turn out to be the most interesting,” said Rajiv McCoy, a human geneticist at Johns Hopkins University, who was also a part of the Telomere-to-Telomere team Consortium.
“It’s exciting because we get to take the first look inside these regions and see what we can find,” he added.
Another major difference between the current and past Genome sequencing methodologies is with respect to accommodating diversity in genetic research.
Past genetic researchers have been criticized for their over-reliance on DNAs from people of European descent.
This time, however, the T2T consortium of scientists sequenced the human genome using DNA data collected from thousands of people of diverse backgrounds worldwide.
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With Scientific and technological progress, scientists now know that the sequence of bases in DNA determines the genetic information of a given organism. To put it differently, the genetic make-up of an individual lies in the DNA sequences.
The genetic difference between two individuals is the result of a difference in their DNA sequences, at least in some places.
In 1990 scientists launched a very ambitious Human Genome Project to find out the complete DNA sequence of the human genome. It was a 13-year project sponsored by the U.S. Department of Energy and the National Institute of Health.
Cost of Genome Sequencing
The cost of sequencing of the human genome is immense by any standard. According to geneticists, the human genome has over contains 3164.7 million base pairs. If it costs 3$ to sequence one base pair, the total estimated cost would be around 9 billion U.S. dollars.
Objective of Genome Sequencing
Complete human genome sequencing is set to bring revolutionary changes in the diagnosis and treatment of diseases. Besides providing clues to understanding human biology, it can lead to solving critical challenges in health care, agriculture, energy production, and environmental remediation.