Scientists claim to have created the most complete “gapless” sequence of the human genome to date, nearly 20 years after the Human Genome Project created the first draft sequence.

It has been hoped for decades that by mapping the human genome, scientists can better understand disease-causing mutations and genetic variation among individuals. In 2003 – after 13 years of time-consuming and expensive research – scientists revealed roughly 92pc of the human genome.

Now, scientists at the Telomere to Telomere (T2T) consortium say they have mapped out a fully complete sequence, which they used to provide more accurate information about the genomic variants within 622 medically relevant genes. The researchers said they also discovered more than 2m additional variants in the human genome.

The T2T consortium included researchers at the National Human Genome Research Institute (NHGRI), which was the primary funder for the study.

“Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint,” NHGRI director Dr Eric Greene said. “This foundational information will strengthen the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will empower genetic studies of human disease.”

NHGRI said many research groups have already started using a pre-release version of this complete human genome sequence for their research. It is hoped this research will help scientists understand the genetic contributions to certain diseases, or how to use genome sequences in future clinical care.

In practice, this could mean cancer could be detected in the blood or tumours discovered before they would be visible through more traditional scans. The consortium’s co-chair Dr Adam Phillippy, said sequencing a person’s entire genome should get less expensive and more straightforward in the years to come.

“Truly finishing the human genome sequence was like putting on a new pair of glasses,” Phillippy said. “Now that we can clearly see everything, we are one step closer to understanding what it all means.”

The researchers said analysis of the complete genome will help answer basic biology questions about how chromosomes properly segregate and divide.

Since the days of the Human Genome Project, we have seen major improvements to the effectiveness and cost of laboratory tools and computational approaches to deciphering one of data science’s greatest challenges.

For example, where it once cost $2.7bn and required the world’s most advanced hardware, a team of researchers showcased a portable device in 2018 that could sequence the genome in a fraction of the time, while being more accurate.

This device – called the Oxford Nanopore – was used by the T2T consortium, along with the PacBio HiFi DNA sequencing method.

Six papers encompassing the completed sequence appear in Science, along with companion papers in several other journals.

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