More than 20 years since the draft human genome was celebrated as a scientific milestone, scientists have finally finished the task. The first complete, gap-free sequence of the human genome has been published in advance, expected to pay the way insights into health and what makes our species distinctive.

Dr. Karen Miga, a scientist at the University of California, Santa Cruz, who co-led the international consortium behind the project, said: “These parts of the human genome that we haven’t been able to study for 20-plus years are important to our understanding of how the genome works, genetic diseases, and human diversity and evolution.”

Until now, about 8 % of the human genome was missing, and giant stretches of extremely repetitive sequences were represented as “junk DNA.” In reality, though, these repeated sections were omitted due to technical difficulties in sequencing them rather than pure lack of interest.

Sequencing a genome is something like slicing up a book into snippets of text than trying to reconstruct the book by piecing them together again. Stretches of text that contain lots of common or repeated words and phrases would be tougher to place in their correct place than a more unique piece of text. New “long-read” sequencing techniques that decode big chunks of DNA right away – enough to capture several repeats – helped overcome this hurdle.

Scientists were ready to modify the puzzle further by using an unusual cell type that only contains DNA inherited from the father (most cells in the body contain two genomes – one from each parent). These 2 advances allowed them to decode the more than 3bn letters that comprise the human genome.

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Alice Jane
Alice is the Chief Editor with relevant experience of three years, Alice has founded Galaxy Reporters. She has a keen interest in the field of science. She is the pillar behind the in-depth coverages of Science news. She has written several papers and high-level documentation.

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