Visualization of sections of the human genome sequence at the Wellcome Sanger Institute near Cambridge, UK.Credit: James King-Holmes/Science Photo Library.
When the sequencing of the human genome was announced two decades ago by the Human Genome Project and biotech firm Celera Genomics, the sequence was not truly complete.
Scientists solved some of the puzzle over time, but the most recent human genome, which geneticists have used as a reference since 2013, still lacks 8% of the full sequence.
Now, researchers in the Telomere-to-Telomere (T2T) Consortium, an international collaboration that comprises around 30 institutions, have filled in those gaps.
The newly sequenced genome — dubbed T2T-CHM13 — adds nearly 200 million base pairs to the 2013 version of the human genome sequence.
She hopes that future human genome sequences will cover everything, including the newly sequenced sections — not just the parts that are easy to read.
This should be easier now that the reference genome has been completed and some of the technical snags have been worked out. »
