The pioneering Human Genome Project study sequenced 92% of the human genome nineteen years ago. Scientists, on the other hand, have been unable to decode the remaining 8%. Now, a team of 100 scientists from the Telomere-to-Telomere (T2T) Consortium has succeeded in sequencing the whole human genome.
On March 31, the new study was published in the journal Science. Evan Eichler, a Howard Hughes Medical Institute investigator at the University of Washington and the research leader said, ‘Having this complete information will allow us to better understand how we form as an individual organism and how we vary not just between other humans but other species’.
Scientists investigating DNA variations across groups of humans and any possible link to disease would benefit greatly from the complete mapping of the human genome. According to the study, the entire version of the consortium’s sequencing has 19,969 genes that encode proteins, with 2,000 of them being novel. Around 2 million new genetic variations were apparently discovered by the researchers, 622 of which were found in therapeutically important genes.
As per Eichler, the newly coded genes comprise immune response genes that help humans to adapt and survive diseases, plagues and viruses. They are also extremely essential in terms of predicting medication response.
For years, decoding the remaining 8% of DNA proved challenging due to its extremely repeated parts. Hence, the sequencing techniques used before did not properly fit them into the overall structure in the correct sequence. ‘Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint’, Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the US National Institutes of Health, said in a statement.