DiamondsDenovo

DiamondsDenovo
Laboratory of Tychele N. Turner, Ph.D.
Washington University in St. Louis

 

The goal of this tool is to find "diamonds in the rough" in the genome. It is used to identify regions of the genome with an excess of de novo variants. There are two parts of the tool. The first is a script (genomic_mutation_rate.py) to generate mutation rates to use as priors for assessing de novo variants. This tool calculates mutation rates directly, by comparing between two genomes with known divergence times. It can optionally provide a weighted mutation rate that integrates other features (i.e., CADD scores). The second is a script (diamonds.R) to generate p-values for de novo variants in a given set of regions in the genome.