Researchers say they have sequenced the full human genome, including the hard-to-decipher parts, according to Stat News.
When the first human genome was declared sequenced about 20 years ago, gaps remained — particularly around centromeres — and totaled about 8 percent of the human genome. In a preprint posted to BioRxiv, researchers from the Telomere-to-Telomere Consortium say they have now filled those spots in as well as further improved the human genome assembly.
The consortium, led by the National Human Genome Research Institute's Adam Phillippy, combined PacBio HiFi and Oxford Nanopore ultra-long read sequencing of a complete hydatidiform mole cell line to generate the updated assembly. It, Ewan Birney from the European Molecular Biology Laboratory tells Stat News, is "a technical tour de force."
Others are more cautious. Elaine Mardis from the Institute for Genomic Medicine at Nationwide Children's Hospital tells it that some of the sequences reported could be due to the "detritus" that crops up when cells are kept in culture.
Having centrometric data would be a boon for cancer research, Cancer Research UK's Sarah McClelland adds at Chemical & Engineering News. She says there that making the data readily available "has allowed us, and many others, to start making use of the new reference immediately."