DNENRICH is a statistical software package for calculating gene set enrichment for de novo mutations (typically detected by exome sequencing) of a disease cohort. It is designed to assess the following:
- Gene set enrichment: estimate statistical significance of enrichment of de novo mutations within pre-defined groups of genes
- Gene recurrence: estimate significance of gene-level recurrence of de novo mutations (either exome-wide, or within pre-defined groups of genes)
- Comparative enrichment or recurrence: perform comparative analysis between one set of mutations and a "contrast" set of mutations
- Simulation of mutations: output randomly simulated de novo mutations
DNENRICH is a stand-alone C++ program supported on the Linux command line.
DNENRICH has been used in the following work:
Fromer et al. (2014) "De novo mutations in schizophrenia implicate synaptic networks." Nature 506(7487):179-84.