AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature
Johannes A. Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Ethan Steinberg, Karthik A. Jagadeesh, Alexander Ratner, Harendra Guturu, Aaron M. Wenger, Mark Diekhans, Peter D. Stenson, D.N. Cooper, Christopher Ré, Alan H. Beggs, Jonathan Adam Bernstein, Gill Bejerano
AMELIE 2 improves Mendelian disorder diagnosis by matching patient phenotypes and genotypes to primary literature, achieving high accuracy and efficiency.
Science Translational Medicine · May 20, 2020Peer-reviewedGenetics