National Institutes of Health (NIH) researchers have developed a software tool called Verkko, which can assemble complete genome sequences from various species. Verkko uses long, accurate reads and haplotype-specific markers to assemble complete, diploid genomes. The software automates the process of assembling genome sequences, making it more affordable and accessible.
The researchers tested Verkko with human and non-human genome sequencing data, and it assembled whole chromosomes quickly and accurately. As more complete human genome sequences are generated using Verkko, researchers can better assess human genomic diversity. The software will also accelerate efforts to generate gapless genome sequences of species commonly used in research, improving their usefulness to scientists.
Ref: Rautiainen M, Nurk S, Walenz BP, et al. Telomere-to-telomere assembly of diploid chromosomes with Verkko. Nature Biotechnology. Published online February 16, 2023. doi:https://doi.org/10.1038/s41587-023-01662-6