UW Medicine genome scientists were among the leading contributors to the publication of the first complete, gapless sequence of a human genome announced this week by the National Human Genome Research Institute.
The lab of Evan Eichler, professor of genome sciences at the University of Washington in Seattle, was one of the major contributors to the main paper, “The complete sequence of the human genome,” published in Science April 1. The achievement is the culmination of a large consortium, the Telomere-to-Telomere, or T2T, which aimed to obtain complete sequences of all 23 human chromosomes, end-to-end.
Eichler’s team and collaborators from other institutions also produced a companion paper offering the first comprehensive view of highly identical, large repeat regions, called segmental duplications, and their variation in human genomes.
These areas of the human genome are critical to understanding human evolution and genetic diversity, as well as resistance or susceptibility to many diseases. Of the 20,000 genes in the human genome, about 950 originate in segmental duplications.
However, segmental duplications were among the last regions of the human genome assembly to be fully sequenced, due to their complexity.
The desire to resolve these regions was part of the impetus for advancing sequencing technologies, such as the ability to read long stretches of DNA. These technologies, along with many laboratory tools, computational biology approaches and other essential research resources, were not available during the first drafting of the human genome more than two decades ago.
