Scientists said this full picture of the genome will give humanity a greater understanding of our evolution.
An international team described the first-ever sequencing of a complete human genome – the set of instructions to build and sustain a human being – in research published Thursday in the journal Science. The previous effort, celebrated across the world, was incomplete because DNA sequencing technologies of the day weren’t able to read certain parts of it. Even after updates, it was missing about 8% of the genome.
Scientists said this full picture of the genome will give humanity a greater understanding of our evolution and biology while also opening the door to medical discoveries in areas like aging, neurodegenerative conditions, cancer and heart disease. The human genome is made up of about 3.1 billion DNA subunits, pairs of chemical bases known by the letters A, C, G and T. Genes are strings of these lettered pairs that contain instructions for making proteins, the building blocks of life. Humans have about 30,000 genes, organized in 23 groups called chromosomes that are found in the nucleus of every cell.
Their work adds new genetic information to the human genome, corrects previous errors and reveals long stretches of DNA known to play important roles in both evolution and disease. A “This is a major improvement, I would say, of the Human Genome Project,” doubling its impact, said geneticist Ting Wang of the Washington University School of Medicine in St. Louis, who was not involved in the research.
Scientists said some areas were illegible before improvements in gene sequencing machines that now allow them to, for example, accurately read a million letters of DNA at a time. That allows scientists to see genes with repeated areas as longer strings instead of snippets that they had to later piece together.
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