First Entire Human Genome to Be Sequenced This Year

Good news! About time!

I am not sure, why they did not take the DNA from an anonymous donor!

What is next? Entire genome sequencing from different donors? One person is certainly not enough.

"... 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. ...

DNA donor

Peshkin is a systems biologist at Harvard Medical School in Boston, Massachusetts. Much of his research is focused on understanding the mechanisms of ageing and how to slow them. "I happen to believe that the duration of normal healthy human life is completely arbitrary, that it could be radically extended," he says. Genomics is a big part of his work and he wants to drive it forwards. As a result, he has donated his DNA to a string of major sequencing projects. "My genome is by far the best characterised individual genome on the planet today, [or] at least definitely the best characterised public genome – not just of humans, of any species," he explains.

Peshkin's first donation was to the Personal Genome Project, launched in 2005. Its purpose was to elicit volunteers who would share their DNA publicly, to enable more rapid and effective research – and to overcome fears about potential abuses of genomic data.

A decade later, Peshkin's DNA was re-used by the Genome in a Bottle (GIAB) project. This aimed to sequence the genomes of cell lines that could be grown indefinitely in the lab, making it easier to study the effects of mutations. Peshkin's genome was desirable because he had also signed up his parents for the Personal Genome Project, giving GIAB a mother-father-son trio. ..."

Why the human genome was never completed - BBC Future No human genome has ever been read in its entirety before. This year, scientists expect to pass that milestone for the first time.

The complete sequence of a human genome (open access, dated 5/27/2021)

Telomere-to-telomere assembly of a complete human X chromosome (open access, dated 7/14/2020)