Scientists say they have finally assembled the full genetic blueprint for human life, adding the missing pieces to a puzzle nearly completed two decades ago.
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 version of the research was published last year before being reviewed by scientific peers. Turns out that gold includes many important genes, he said, such as ones integral to making a person’s brain bigger than a chimp’s, with more neurons and connections.Reading genes requires cutting the strands of DNA into pieces hundreds to thousands of letters long. Sequencing machines read the letters in each piece and scientists try to put the pieces in the right order. That’s especially tough in areas where letters repeat.
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