Overview

• Researchers at Texas Children’s Neurological Research Institute and Baylor College of Medicine applied local ancestry inference to gnomAD to estimate allele frequencies within African, European, and Indigenous American tracts.
• In African/African American and Latino/Admixed American groups, more than 80% of sites had a higher frequency in at least one ancestry-specific tract than aggregate population labels suggested.
• The updated estimates push certain variants above ACMG benign cutoffs, enabling reclassification and reducing the risk of misinterpretation in clinical genetics.
• The ancestry-specific frequency data and associated tooling are integrated into gnomAD and are publicly available for clinicians, researchers, and genetic testing laboratories.
• The peer-reviewed paper, led by senior author Elizabeth Atkinson with co-first authors Pragati Kore and Michael Wilson, appears in Nature Communications (DOI: 10.1038/s41467-025-63340-2).