Quantifying the effects of computational filter criteria on the accurate identification of de novo mutations at varying levels of sequencing coverage.

Abstract excerpt

The rate of spontaneous (de novo) germline mutation is a key parameter in evolutionary biology, impacting genetic diversity and contributing to the evolution of populations and species. Mutation rates themselves evolve over time but the mechanisms underlying the mutation rate variation observed across the Tree of Life remain largely to be elucidated. In recent years, whole genome sequencing has enabled the...

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