AMELIE accelerates Mendelian patient diagnosis directly from the primary literature
Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Karthik A. Jagadeesh, Alexander J. Ratner, Harendra Guturu, Aaron M. Wenger, Peter D. Stenson, David N. Cooper, Christopher Ré, Jonathan A. Bernstein, Gill Bejerano
bioRxiv 171322; doi: https://doi.org/10.1101/171322