Overview

Today we announce the release of a new tool, the Genetic Prevalence Estimator (GeniE, https://genie.broadinstitute.org), which uses gnomAD allele frequencies to estimate the genetic prevalence of autosomal recessive diseases. This tool was developed in partnership with the Chan Zuckerberg Initiative Rare as One Network. By removing the need for computational expertise, GeniE makes estimating the genetic prevalence of rare recessive disease more accessible to the entire genomics community.