Posts by Samantha Baxter

News

The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.


New data available in the Genetic Prevalence and Incidence Estimator (GenIE)

June 15, 2026 in Announcements / Release
Samantha Baxter, Rachel Ungar, Mutaz Amin, Elissa Alarmani, Riley Grant, Carmen Glaze, Kaitlin Samocha, Anne O'Donnell-Luria

Overview
Today we announce the latest update to our tool, the Genetic Prevalence and Incidence Estimator (GenIE, https://genie.broadinstitute.org), which now includes estimates of genetic incidence of de novo variation (GIDNV). This new feature uses gnomAD v4.1.1 constraint data to estimate the frequency of suspected de novo disease-causing variation at zygote creation.

GeniE, the Genetic Prevalence Estimator

June 04, 2024 in Announcements / Release
Samantha Baxter, Riley Grant, Josephine Lee, Nick Watts, Chan Zuckerberg Initiative Rare as One Network, Anne O'Donnell-Luria, Heidi Rehm

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.