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First complete sequence of a human genome, supported by Oxford Nanopore sequencing technology

Thu 31st March 2022

In a paper published today in the journal Science, a team of researchers reveal they have sequenced the entire human genome and uncovered epigenetic patterns, 30 years after this mission began  

Overcoming the final barriers 

A group of researchers, who make up the Telomere-to-Telomere (T2T) Consortium has published the first truly complete 3.055 billion base pair sequence of a human genome. Technological barriers have previously meant that 8% of the genome remained inaccessible, however using sequencing technology from Oxford Nanopore, and others, this has finally been overcome. 

The unknown sequence in the genome was primarily made up of highly-repetitive regions that have been impossible to resolve with traditional sequencing technology. Using nanopore technology, which can sequence DNA fragments at least as long as 4 million bases, and as such is the only sequencing technology able to span some of the largest and most complex regions of the human genome, the researchers have uncovered new information about the genetics of human health and disease. 

In addition to spanning these complex regions, nanopore sequencing technology also provides real-time information about base modifications; this information about methylation of DNA is commonly being linked to disease, including cancer. Nanopore sequencing is the only approach to enable direct detection of methylation changes across the whole genome, and the sequencing of long fragments makes phasing of modifications simpler. 

Gordon Sanghera, CEO Oxford Nanopore Technologies, commented: 

“The mission to sequence the whole human genome started more than 30 years ago and we are delighted to see the telomere-to-telomere Consortium has now finished the first truly complete, more than 3 billion base pair sequence. Oxford Nanopore’s high accuracy and ultra-long sequencing capabilities have finally removed technological barriers and enabled the final 8% of the genome to be revealed. We congratulate all the fantastic scientists that have contributed to this ground-breaking project. 

This significant milestone will allow comprehensive studies of genomic variation across the entire human genome and in addition, nanopore technology enables direct, conversion-free detection of methylation changes, which are commonly being linked to disease. Furthermore, as we know through separate research, 34% of all disease-causing variation is made up of variants that are larger than a single base-pair substitution, meaning that nanopore sequencing can reveal new insights throughout the genome. 

The complete, telomere-to-telomere assembly of a human genome marks the next era of genomics and opens up huge research potential in human health and disease.” 

For more information on nanopore technology, see Clive G Brown’s, CTO Oxford Nanopore Technologies, latest technology update here.  

'The complete sequence of a human genome' paper can be accessed here.

 

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