AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.

Autor: Birgmeier J; Department of Computer Science, Stanford University, Stanford, CA 94305, USA., Haeussler M; Santa Cruz Genomics Institute, MS CBSE, University of California Santa Cruz, Santa Cruz, CA 95064, USA., Deisseroth CA; Department of Computer Science, Stanford University, Stanford, CA 94305, USA., Steinberg EH; Department of Computer Science, Stanford University, Stanford, CA 94305, USA., Jagadeesh KA; Department of Computer Science, Stanford University, Stanford, CA 94305, USA., Ratner AJ; Department of Computer Science, Stanford University, Stanford, CA 94305, USA., Guturu H; Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA., Wenger AM; Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA., Diekhans ME; Santa Cruz Genomics Institute, MS CBSE, University of California Santa Cruz, Santa Cruz, CA 95064, USA., Stenson PD; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK., Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK., Ré C; Department of Computer Science, Stanford University, Stanford, CA 94305, USA., Beggs AH; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bernstein JA; Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA., Bejerano G; Department of Computer Science, Stanford University, Stanford, CA 94305, USA. bejerano@stanford.edu.; Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA.; Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA.; Department of Biomedical Data Science, Stanford University, Stanford, CA 94305, USA.

Publikováno v: Science translational medicine [Sci Transl Med] 2020 May 20; Vol. 12 (544).