AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature
Johannes A. Birgmeier, Cole A. Deisseroth, Laura E. Hayward, Luisa M.T. Galhardo, Andrew P. Tierno, Karthik A. Jagadeesh, Peter D. Stenson, D.N. Cooper, Jonathan Adam Bernstein, Maximilian Haeussler, Gill Bejerano
AVADA automatically curates a database of pathogenic variants from full-text literature, outperforming existing methods and providing more variants than ClinVar.
Genetics in Medicine · Aug 29, 2019Peer-reviewedGenetics