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The discovery could help scientists understand the genetic contributions to diseases and it could inform clinical care in the future.
Scientists have published the first complete, “gapless” sequence of the human genome, 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 genetic variations and the potential impact on disease. In 2003 – after 13 years of time-consuming and expensive research – scientists revealed roughly 92pc of the human genome.
Now, researchers in the Telomere to Telomere (T2T) consortium say they have mapped out a fully complete sequence. They used this sequence as a reference to discover more than 2m additional variants in the human genome, providing more accurate information about the genomic variants within 622 medically relevant genes.
The T2T consortium included researchers at the US National Human Genome Research Institute (NHGRI), which was the primary funder for the study that was published this week in Science. It also included researchers at the University of California Santa Cruz and the University of Washington.
“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 the discovery will help scientists understand the genetic contributions to certain diseases, or how to use genome sequences in future clinical care.
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 added. “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 in laboratory tools and computational approaches to deciphering one of data science’s greatest challenges.
Six papers encompassing the completed sequence appear in Science, along with companion papers in several other journals.
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