Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins. - Michael Yourshaw; S. Paige Taylor; Aliz R. Rao; Martín G. Martín; Stanley F. Nelson (Briefings Bioinform., 2015)

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)