Researchers at the National Institutes of Health (NIH) developed an innovative software tool to assemble complete (gapless) genome sequences from various species. Dubbed Verkko, “network” in Finnish, the tool makes creating the sequences affordable and accessible. They published their work in Nature Biotechnology.
Verkko started as the first gapless human genome sequence, by the Telomere-to-Telomere (T2T) funded by the National Human Genome Research Institute (NHGRI), part of NIH. T2T used new DNA sequencing technologies and analytical methods on the remaining 8-10% of the human genome sequence but assembled the fragments manually, each taking several years to complete. Verkko can finish the same task in a couple of days.
Verkko starts by assembling small, detailed pieces, creating many partially built but disconnected sequence segments. Then it compares the assembled regions with the larger, less precise pieces. The final product is an accurate and complete genome sequence.
With both human and non-human genome sequencing data, the software quickly and precisely assembled the sequences of whole chromosomes. Next is the ability to better assess human genomic diversity. With only one gapless human genome sequence, there’s insufficient knowledge about the diversity of many portions of the genome, such as regions of highly repetitive DNA, across the human population. The software will also accelerate efforts to generate gapless genome sequences of species used in research, such as mice, fruit flies, and zebrafish. Gapless genome sequences from various plants, animals, and other organisms will aid in comparative genomics, the study of the differences and similarities among the genomes of diverse species.