
AbstractMotivationBeyond identifying genetic variants, we introduce a set of Boolean relations, which allows for a comprehensive classification of the relations of every pair of variants by taking all minimal alignments into account. We present an efficient algorithm to compute these relations, including a novel way of efficiently computing all minimal alignments within the best theoretical complexity bounds.ResultsWe show that these relations are common, and many non-trivial, for variants of the CFTR gene in dbSNP. Ultimately, we present an approach for the storing and indexing of variants in the context of a database that enables efficient querying for all these relations.Availability and implementationA Python implementation is available at https://github.com/mutalyzer/algebra/tree/v0.2.0 as well as an interface at https://mutalyzer.nl/algebra.
Genomics (q-bio.GN), FOS: Computer and information sciences, Original Paper, Databases, Factual, FOS: Biological sciences, Computer Science - Data Structures and Algorithms, Quantitative Biology - Genomics, Data Structures and Algorithms (cs.DS), Algorithms, Software, Data Management
Genomics (q-bio.GN), FOS: Computer and information sciences, Original Paper, Databases, Factual, FOS: Biological sciences, Computer Science - Data Structures and Algorithms, Quantitative Biology - Genomics, Data Structures and Algorithms (cs.DS), Algorithms, Software, Data Management
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