BBI interviewed Drs. Evan Eichler and Danny Miller, as well as postdoctoral fellow Dr. Glennis Logsdon, on the first complete sequence of the human genome, announced in late March in a series of papers published in Science.
BBI: What is the backstory behind this breakthrough paper of the completion of sequencing the human genome?
Eichler: When we were finishing the human genome back in 2003, we realized a lot of the errors had to do with trying to sort out different complex regions. We had inadvertently combined the mother’s and the father’s structures of that part of the genome that were incompatible with each other. It created a lot of gaps in repetitive regions, but especially in the duplicated regions that contained genes.
In 2003, I submitted a white paper to the National Institutes of Health to start building genomic resources from a human source that only contained paternal information (i.e. a complete hydatidiform mole). That led to research over several years resolving many of those gaps of the original human genome.
Fast forward 15 years. Long-read sequencing had been used for several years and we started sequencing that same source in an effort to completely resolve the complex regions and gaps. Separately, Adam Phillippy at the National Institutes of Health and Karen Miga at the University of California, Santa Cruz also had started sequencing it using a different long read sequencing technology. Adam called me early in 2018 and said, “Wait a minute, we’re competing against each other. Let’s come together and work on this.”
