Researchers in 2003 discovered what was then called the complete sequence of the human genome. But about 8% of it was not fully deciphered, mainly because it consisted of highly repetitive pieces of DNA that were difficult to attach to the rest.
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A consortium of scientists solved this in a study published in the journal Science. The project was first made public last year before the formal peer review process. “Creating a truly complete sequence of the human genome represents an incredible scientific achievement, providing the first complete view of our DNA profile,” said Eric Green, director of the National Institute of Human Genome Research (NHGRI). . in a statement. “This fundamental information will reinforce the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will enhance genetic studies of human disease,” Green added.
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The full version of the consortium consists of 3.055 billion base pairs, the units from which our chromosomes and genes are made, and 19,969 proteins that encode proteins. From these genes, the researchers identified about 2,000 new ones. Most of them are off, but 115 may still be active. The scientists also identified about 2 million additional genetic variants, 622 of which were in medically related genes. The consortium was named Telomere-to-Telomere (T2T), named after the structures at the ends of all the chromosomes, the filament-like structure in the nucleus of most living cells that carries genetic information in the form of genes. “In the future, when someone submits a sequence of their genome, we will be able to identify all the variants in their DNA and use this information to better guide their healthcare,” said Adam Phillippy, one of the leaders. of T2T and senior researcher at The NHGRI, said in a statement.
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“Completing the sequence of the human genome was really like wearing a new pair of glasses. “Now that we can see everything clearly, we are one step closer to understanding what everything means.” Among other things, the new DNA sequences provided new details about the area around what is called the centromere, where chromosomes are grabbed and removed when cells divide to ensure that each “daughter” cell inherits the right number of chromosomes. “Revealing the full sequence of these previously missing genome regions told us so much about how they were organized, something that was completely unknown to many chromosomes,” said Nicolas Altemose, a postdoctoral fellow at the University of California, Berkeley. in a statement. (Report by Will Dunham, Edited by Rosalba O’Brien)
title: “Scientists Publish The First Complete Human Genome " ShowToc: true date: “2022-11-18” author: “David Longshore”
Scientists on Thursday published the first complete human genome, filling in the gaps left by previous attempts, and offering new promise in the search for evidence of mutations that cause disease and genetic variation among the 7.9 billion people in the world. Researchers in 2003 discovered what was then called the complete sequence of the human genome. But about 8 percent of it had not been fully deciphered, mainly because it consisted of highly repetitive pieces of DNA that were difficult to attach to the rest. A consortium of scientists solved this in a study published in the journal Science. The project was first made public last year before the formal peer review process. “Creating a truly complete sequence of the human genome represents an incredible scientific achievement, providing the first complete view of our DNA profile,” said Eric Green, director of the National Institute of Human Genome Research (NHGRI). . in a statement. “This fundamental information will reinforce the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will enhance genetic studies of human disease,” Green added. The full version of the consortium consists of 3.055 billion base pairs, the units from which our chromosomes and genes are made, and 19,969 proteins that encode proteins. From these genes, the researchers identified about 2,000 new ones. Most of them are off, but 115 may still be active. The scientists also identified about 2 million additional genetic variants, 622 of which were in medically related genes. The consortium was named Telomere-to-Telomere (T2T), named after the structures at the ends of all the chromosomes, the filament-like structure in the nucleus of most living cells that carries genetic information in the form of genes. “In the future, when someone submits a sequence of their genome, we will be able to identify all the variants in their DNA and use this information to better guide their healthcare,” said Adam Phillippy, one of the leaders. of T2T and senior researcher at The NHGRI, said in a statement. “Completing the sequence of the human genome was really like wearing a new pair of glasses. “Now that we can see everything clearly, we are one step closer to understanding what everything means.” Among other things, the new DNA sequences provided new details about the area around what is called the centromere, where chromosomes are grabbed and removed when cells divide to ensure that each “daughter” cell inherits the right number of chromosomes. “Revealing the full sequence of these previously missing genome regions told us so much about how they were organized, something that was completely unknown to many chromosomes,” said Nicolas Altemose, a postdoctoral fellow at the University of California, Berkeley. in a statement. The Morning and Afternoon Newsletters are compiled by Globe editors, giving you a brief overview of the day’s most important headlines. Register today.
