Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. - Lane Fitzsimmons; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Eric Allenspach; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; et al. (BioData Min., 2025)

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases. - Emily Alsentzer; Michelle M. Li; Shilpa N. Kobren; Ayush Noori; Isaac S. Kohane; Marinka Zitnik (npj Digit. Medicine, 2025)