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A Probabilistic Model for Indel Evolution: Differentiating Insertions from Deletions

Gil Loewenthal, Dana Rapoport, Oren Avram, Asher Moshe, Elya Wygoda, Alon Itzkovitch, Omer Israeli, Dana Azouri, Reed A. Cartwright, Itay Mayrose, Tal Pupko

2021Molecular Biology and Evolution31 citationsDOIOpen Access PDF

Abstract

Insertions and deletions (indels) are common molecular evolutionary events. However, probabilistic models for indel evolution are under-developed due to their computational complexity. Here, we introduce several improvements to indel modeling: 1) While previous models for indel evolution assumed that the rates and length distributions of insertions and deletions are equal, here we propose a richer model that explicitly distinguishes between the two; 2) we introduce numerous summary statistics that allow approximate Bayesian computation-based parameter estimation; 3) we develop a method to correct for biases introduced by alignment programs, when inferring indel parameters from empirical data sets; and 4) using a model-selection scheme, we test whether the richer model better fits biological data compared with the simpler model. Our analyses suggest that both our inference scheme and the model-selection procedure achieve high accuracy on simulated data. We further demonstrate that our proposed richer model better fits a large number of empirical data sets and that, for the majority of these data sets, the deletion rate is higher than the insertion rate.

Topics & Concepts

IndelBiologyINDEL MutationGeneticsEvolutionary biologyProbabilistic logicComputational biologyGeneArtificial intelligenceComputer scienceSingle-nucleotide polymorphismGenotypeEvolution and Genetic DynamicsLanguage and cultural evolutionGenomics and Phylogenetic Studies