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ABSTRACT: Motivation
We face an increasing flood of genetic sequence data, from diverse sources, requiring rapid computational analysis. Rapid analysis can be achieved by sampling a subset of positions in each sequence. Previous sequence-sampling methods, such as minimizers, syncmers and minimally overlapping words, were developed by heuristic intuition, and are not optimal.Results
We present a sequence-sampling approach that provably optimizes sensitivity for a whole class of sequence comparison methods, for randomly evolving sequences. It is likely near-optimal for a wide range of alignment-based and alignment-free analyses. For real biological DNA, it increases specificity by avoiding simple repeats. Our approach generalizes universal hitting sets (which guarantee to sample a sequence at least once) and polar sets (which guarantee to sample a sequence at most once). This helps us understand how to do rapid sequence analysis as accurately as possible.Availability and implementation
Source code is freely available at https://gitlab.com/mcfrith/noverlap.Supplementary information
Supplementary data are available at Bioinformatics online.
SUBMITTER: Frith MC
PROVIDER: S-EPMC9907223 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Bioinformatics (Oxford, England) 20230201 2
<h4>Motivation</h4>We face an increasing flood of genetic sequence data, from diverse sources, requiring rapid computational analysis. Rapid analysis can be achieved by sampling a subset of positions in each sequence. Previous sequence-sampling methods, such as minimizers, syncmers and minimally overlapping words, were developed by heuristic intuition, and are not optimal.<h4>Results</h4>We present a sequence-sampling approach that provably optimizes sensitivity for a whole class of sequence com ...[more]