The Power of Partnership: Democratizing Genetic Prevalence to Empower Patient Advocacy
Samantha M. Baxter, Moriel Singer‐Berk, Carmen Glaze, Kathryn Russell, Riley H. Grant, Emily Groopman, J. H. Lee, Nick Watts, Jordan C. Wood, Michael Wilson, Rare As One Network, Heidi L. Rehm, Anne O’Donnell‐Luria
The paper estimates genetic prevalence for 22 autosomal recessive conditions using gnomAD data and develops a tool to democratize these calculations, highlighting the dynamic nature of prevalence estimates.
medRxiv · Mar 31, 2026 · PreprintGenetic & Genomic Medicine