AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
J. Birgmeier, M. Haeussler, C. A. Deisseroth, E. Steinberg, K. Jagadeesh, Alexander J. Ratner, H. Guturu, A. Wenger, M. Diekhans, P. Stenson, D. Cooper, Christopher Ré, A. Beggs, J. Bernstein, G. Bejerano
Science Translational Medicine