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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Birgmeier, Johannes; Haeussler, Maximilian; Deisseroth, Cole A; Steinberg, Ethan H; Jagadeesh, Karthik A; Ratner, Alexander J; Guturu, Harendra; Wenger, Aaron M; Diekhans, Mark E; Stenson, Peter D; Cooper, David N; Ré, Christopher; Beggs, Alan H; Bernstein, Jonathan A; Bejerano, Gill.
Affiliation
  • 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.
Sci Transl Med ; 12(544)2020 05 20.
Article in En | MEDLINE | ID: mdl-32434849
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exome Limits: Child / Humans Language: En Journal: Sci Transl Med Journal subject: CIENCIA / MEDICINA Year: 2020 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exome Limits: Child / Humans Language: En Journal: Sci Transl Med Journal subject: CIENCIA / MEDICINA Year: 2020 Type: Article Affiliation country: United States