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Roulette

A mutation rate model at the basepair resolution identifies the mutagenic effect of Polymerase III transcription

Rate estimates in VCF format can be downloaded here: http://genetics.bwh.harvard.edu/downloads/Vova/Roulette/

Project components

adding_mutation_rates

Scripts are provided to facilitate annotating variant data with estimates from Roulette and the two models analyzed as comparison.

analysis_of_mutational_effects

mutation_rate_model

population_genetics

Notebooks used to analyze the distribution of allele frequencies (SFS) under recurrent mutation using Roulette estimates.

  • Use a demographic model of faster-than-exponential growth to predict the SFS in each Roulette bin.
  • Estimate the distribution mutation rates among observed SNVs in RNU, tRNA, and IGK genes.
  • Perform simulations to estimate the probability that rare minor alleles are ancestral.

validation

Notebooks used to estimate the residual variance in mutation rates and compare Roulette estimates to other models.

  • Calculate pseudo-R^2 for different models and use bootstrap samples to estimate confidence intervals.
  • Compare the de novo mutation rates at SNV and non-SNV sites to estimate the residual variance in each mutation rate bin for each model.

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A mutation rate model at the basepair resolution identifies the mutagenic effect of Polymerase III transcription

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