BBC by Michael Marshall 2/12/2023
No human genome has ever been read in its entirety before. This year, scientists expect to pass that milestone for the first time.efore the end of 2023, you should be able to read something remarkable. It will be the story of a single individual, who they are and where they come from – and it will offer hints about what their future holds. It probably won't be the most entertaining read on first glance, and it will be very, very long. But it will be a seminal moment – the publication online of the entire genome of a human being, end to end with no gaps.
At this point you may feel that you have heard this before. Surely the human genome was published decades ago? Isn't that all done?
It was, in fact, never finished. The first draft of the human genome was released in 2001, before a consortium of international scientists of the Human Genome Project announced that they had "completed" the job with a finished sequence in 2003. Assembled from chunks of various people's DNA, this became the "reference" sequence against which all other human DNA could be compared.
It was certainly the best that could be done at the time, but had major gaps and errors. Later releases improved on it, but many of the problems persisted. Only in the last few years has technology advanced to the point that it is possible to read the entire human genome, without gaps and with minimal errors. But these have all been composites, using DNA drawn from multiple individuals. This year, for the first time, the entire genome of a single human being – a man named Leon Peshkin – is due to be released.
This complete, single human genome will be a monumental technical achievement. Only 70 years have passed since the double-helix structure of DNA was first revealed, thanks in part to a grainy black and white image taken by Rosalind Franklin, transforming our understanding of how genetic information is stored. Today we have the capability to read the entire genetic 'textbook' that makes a person unique.
But the geneticists involved say it is also a beginning, not an end. They now want to sequence the genomes of people from around the world, to build up a true picture of our species' genetic diversity. They want to understand what the previously unsequenced sections of DNA are doing. And they want to roll out end-to-end genome sequencing in clinics, to help doctors diagnose and treat us when we get sick.
In short, the human genome will never be complete. We will never be done reading it.
The first human genome
The original Human Genome Project (HGP) was one of the biggest scientific projects ever attempted, costing about $3bn (£2.5bn) . Launched in 1990, its aim was to read all the DNA the average human carries in their cells. The first draft sequence was published just over a decade later, in 2001. Simultaneously, another version of the genome was published by Celera Genomics.
More:
https://www.bbc.com/future/article/20230210-the-man-whose-genome-you-can-read-end-to-end
