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:

DNENRICH models exome-wide dispersion of de novo mutations under a null hypothesis that accounts for gene size, tri-nucleotide context, functional effect of a mutation, and per-trio effective gene coverage. It simulates mutations using this model and then performs one-sided statistical testing of the observed data.

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.