Scientists finally finish decoding entire human genome

Many think the sequencing was already complete, but a previous effort two decades ago was incomplete and actually missing about 8 per cent of the information

This full picture of the genome could open the door to medical discoveries in areas like ageing, neurodegenerative conditions, cancer and heart disease

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The output from a DNA sequencer is seen in an undated image. Photo: National Human Genome Research Institute via AP

Published: 2:39am, 1 Apr 2022Updated: 2:44am, 1 Apr 2022

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 were not able to read certain parts of it. Even after updates, it was missing about 8 per cent of the genome.

“Some of the genes that make us uniquely human were actually in this ‘dark matter of the genome’ and they were totally missed,” said Evan Eichler, a University of Washington researcher who took part in the current effort and the original Human Genome Project. “It took 20-plus years, but we finally got it done.”

In April 2003, Francis Collins, director of the National Human Genome Research Institute, announced the successful completion of the human genome project in Bethesda, Maryland. Photo: AP

Many – including Eichler’s own students – thought it had been finished already. “I was teaching them, and they said, ‘Wait a minute. Isn’t this like the sixth time you guys have declared victory? I said, ’No, this time we really, really did it!”