Scientists on Thursday published the first complete human genome, to fill in the gaps left from previous efforts and offer new promise in the search for clues about disease-causing mutations and genetic diversity among the world’s 7.9 billion people.
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In 2003, researchers revealed what was then announced as the complete sequence of the human genome. But about 8% of them have not been fully decoded, mainly because they are made up of highly repetitive pieces of DNA that are difficult to combine with the rest.
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A consortium of scientists has solved this in a paper published in the journal Science. The work was initially announced last year, before the formal peer review process.
“Establishing a complete sequencing of the human genome is an incredible scientific achievement, providing the first comprehensive view of our DNA model,” said Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. United States, in a statement.
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“This background information will enhance the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will enable genetic studies of human diseases,” Green added.
The complete copy of the conjugate consists of 3.055 billion base pairs, the units from which chromosomes and our genes are built, and 19,669 genes that encode proteins. Among these genes, the researchers identified about 2,000 new genes.
(Video: Nobel Prize in Chemistry, Understanding the Practical Use of Genome Editing Technology.)
The Nobel Prize in Chemistry: Understanding the Practical Use of Genome Editing Technology
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