Posts by Carmen Glaze

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)

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.