UC Santa Cruz

Motivation

Sequence mapping is the cornerstone of modern genomics. However, most existing sequence mapping algorithms are insufficiently general.

Results

We introduce context schemes: a method that allows the unambiguous recognition of a reference base in a query sequence by testing the query for substrings from an algorithmically defined set. Context schemes only map when there is a unique best mapping, and define this criterion uniformly for all reference bases. Mappings under context schemes can also be made stable, so that extension of the query string (e.g. by increasing read length) will not alter the mapping of previously mapped positions. Context schemes are general in several senses. They natively support the detection of arbitrary complex, novel rearrangements relative to the reference. They can scale over orders of magnitude in query sequence length. Finally, they are trivially extensible to more complex reference structures, such as graphs, that incorporate additional variation. We demonstrate empirically the existence of high-performance context schemes, and present efficient context scheme mapping algorithms.

Availability and implementation

The software test framework created for this study is available from https://registry.hub.docker.com/u/adamnovak/sequence-graphs/.

Contact

anovak@soe.ucsc.edu

Supplementary information

Supplementary data are available at Bioinformatics online.