Scientists published the first full human genome, filling in gaps left by earlier attempts and promising fresh insights into disease-causing mutations and genetic variation among the world’s 7.9 billion people.
With the exciting announcement that we made yesterday about the #T2T consortium generating the first truly complete human genome sequence, I thought I would share my thoughts about the relationships between #T2T consortium work and the Human Genome Project. (Thread)
— Eric Green (@NHGRI_Director) April 1, 2022
In 2003, scientists released what was hailed as the first complete sequence of the human genome. However, roughly 8% of it had not been properly deciphered, owing to highly repetitive portions of DNA that were difficult to integrate with the remainder.
Fortunately, all these things came together in recent years within the #T2T consortium — and the rest is for the history books (and perhaps a Netflix movie?), as we now celebrate an iconic series of new publications reporting another historic genomics milestone.
— Eric Green (@NHGRI_Director) April 1, 2022
In a study published in the journal Science, a group of experts came up with a solution. Last year, the work was made public before it went through the normal peer review procedure.
In a statement, Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the US National Institutes of Health, said, “Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint.”
Now that the human genome sequence is truly complete, what’s next? Well, a lot more awesome research to advance human health. Researchers will now complete sequences for more populations to try and better understand human genetic variation. https://t.co/zZBpKbDKHd pic.twitter.com/xkXAu7snnb
— National Human Genome Research Institute (@genome_gov) April 1, 2022
“This foundational information will boost the many ongoing attempts to comprehend all of the functional intricacies of the human genome, which will, in turn, empower genetic studies of human disease,” Green said.
The final version of the collaboration has 3.055 billion base pairs, which are the building blocks of chromosomes and genes, as well as 19,969 genes that code for proteins. The researchers discovered roughly 2,000 novel genes among these. Most of them are inactive, but 115 may still be. About 2 million new genetic variations were discovered by the researchers, 622 of which were found in therapeutically important genes.
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