Evolutionary tools for genomic analysis
BOSS-RUNS (Benefit-Optimising Short-term Strategy for Read Until Nanopore Sequencing) is a method and software that adds a dynamic aspect to adaptive sampling on ONT’s long-read sequencing platform. Nanopore sequencers can select which DNA molecules to sequence, rejecting a molecule after analysis of a small initial part. This procedure of in silico targeted sequencing is called adaptive sampling.
In previous implementations, selection was based on predetermined regions of interest that remain constant throughout an experiment. Sequencing efforts, thus, cannot be re-focused on molecules likely contributing most to experimental success. BOSS-RUNS is an algorithmic framework and software that generates dynamically updated decision strategies. We quantify uncertainty at each genome position with real-time updates from data already observed. Then, for each DNA fragment, we decide whether the expected decrease in uncertainty that it would provide warrants fully sequencing it, thus optimizing information gain. Such data-driven updates to molecule selection are applicable to many sequencing scenarios, such as enriching for regions with increased divergence or low coverage.
More information: https://rdcu.be/dgEih
Software page: https://github.com/goldman-gp-ebi/BOSS-RUNS