Diverse ancestral representation improves genetic intolerance metrics
Alexander L. Han, Chloe F. Sands, Dorota Matelska, Jessica C. Butts, Vida Ravanmehr, Fengyuan Hu, Esmeralda Villavicencio Gonzalez, Nicholas Katsanis, Carlos D. Bustamante, Quanli Wang, Slavé Petrovski, Dimitrios Vitsios, Ryan S. Dhindsa
This study shows that genetic diversity improves the performance of intolerance metrics in identifying disease-related genes, with multi-ancestry data outperforming European-only datasets.
Nature Communications · Mar 18, 2025Peer-reviewedGenetics