Matthew Herper | STAT | June 1, 2021
An international team of scientists says it has sequenced and assembled the entirety of the human genome, including parts that were missed in the sequencing of the first human genome two decades ago.
The claim, if confirmed, surpasses the achievement laid out by leaders from the Human Genome Project and Celera Genomics on the White House lawn in 2000, when they announced the sequencing of the first draft human genome. That historic draft, and subsequent human DNA sequences, have all missed about 8% of the genome.
The sequencing of the new genome fills in these gaps using new technology. It has different limitations, however, including the type of cell line that the researchers used in order to speed up their effort.
“You’re just trying to dig into this final unknown of the human genome,” said Karen Miga, a researcher at the University of California, Santa Cruz, who co-led the international consortium that created the sequence. “It’s just never been done before and the reason it hasn’t been done before is because it’s hard.”
Miga emphasized that she won’t consider the announcement official until the paper is peer-reviewed and published in a medical journal.