National Institutes of Health researchers have developed and released an innovative software tool to assemble truly complete (i.e., gapless) genome sequences from a variety of species. This software, called Verkko, which means “network” in Finnish, makes the process of assembling complete genome sequences more affordable and accessible. A description of the new software was published in Nature Biotechnology.
Verkko grew from assembling the first gapless human genome sequence, which was finished last year by the Telomere-to-Telomere (T2T) consortium, a collaborative project funded by the National Human Genome Research Institute (NHGRI), part of NIH.
The T2T consortium used new DNA sequencing technologies and analytical methods to generate and assemble the remaining 8-10% of the human genome sequence. However, the researchers assembled those fragments manually — a process that took this massive and highly skilled team several years to complete. Verkko can finish the same task in a couple of days.
Verkko compares and assembles both types of pieces to generate a complete and accurate picture.
Verkko starts by putting together the small, detailed pieces, creating many partially assembled but disconnected segments of sequence. Then, Verkko compares the assembled regions with the larger, less precise pieces. These larger pieces serve as a framework to order the more detailed regions. The final product is an accurate and complete genome sequence.
