“Our group is eclectic,” said Borchers. “It’s a bunch of people with computational backgrounds in different bioscience fields. We spend less time processing data and more time developing the approaches and methods to address the questions that need answering for projects that are computational in nature.”

During his internship, Borchers developed a computational method to estimate the size of human centromeres, which he brought to the T2T project.

“We compared the newly-assembled centromeric sequences from the X chromosome of the CHM13 cell line with those from the 1000 Genomes Project, which had samples from different individuals from all over the world, to see how CHM13 compared to a more diverse representation of centromere sequences,” said Borchers.

Consistent with previous research, they found substantial size variation in centromeres between individuals with different geographic ancestry. The researchers published their work in a third Science paper, led by Nick Altemose, PhD, and Miga, reporting the characterization of the genetic and epigenetic landscape of human centromeres.

Productive during the pandemic

Initial efforts from the T2T consortium resulted in the complete assembly of chromosomes X and 8, coauthored by Stowers researchers and published in 2020 and 2021 in Nature. It has since grown into a team of about 100 talented individuals, mostly computational biologists.

“In twenty years from now, when we look back on this human genome project 2.0, it will become clear that it really happened during the pandemic,” reflected Gerton.

Gerton, Potapova, and Gomes de Lima all gave credit to Miga and Phillippy, the two co-leaders of the T2T consortium.

“They established some ground rules early on about how they wanted the consortium to work. It’s a public good we are generating, and they really want people to be collaborative and work together,” said Gerton.