Identification and measurement of neighbor-dependent nucleotide substitution processes

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Abstract

Motivation: Neighbor-dependent substitution processes generated specific pattern of dinucleotide frequencies in the genomes of most organisms. The CpG-methylation-deamination process is, e.g. a prominent process in vertebrates (CpG effect). Such processes, often with unknown mechanistic origins, need to be incorporated into realistic models of nucleotide substitutions. Results: Based on a general framework of nucleotide substitutions we developed a method that is able to identify the most relevant neighbor-dependent substitution processes, estimate their relative frequencies and judge their importance in order to be included into the modeling. Starting from a model for neighbor independent nucleotide substitution we successively added neighbor-dependent substitution processes in the order of their ability to increase the likelihood of the model describing given data. The analysis of neighbor-dependent nucleotide substitutions based on repetitive elements found in the genomes of human, zebrafish and fruit fly is presented. © The Author 2005. Published by Oxford University Press. All rights reserved.

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Arndt, P. F., & Hwa, T. (2005). Identification and measurement of neighbor-dependent nucleotide substitution processes. Bioinformatics, 21(10), 2322–2328. https://doi.org/10.1093/bioinformatics/bti376

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