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Paper Details

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Sci Transl Med
45
2020
Author NameAffiliation
Maximilian HaeusslerSanta Cruz Genomics Institute, University of California Santa Cruz
Aaron M WengerStanford School of Medicine
Mark DiekhansSanta Cruz Genomics Institute, University of California Santa Cruz
Mark DiekhansSanta Cruz Genomics Institute, University of California Santa Cruz
Peter D StensonInstitute of Medical Genetics, Cardiff University
David N CooperInstitute of Medical Genetics, Cardiff University
David N CooperInstitute of Medical Genetics, Cardiff University
Alan H BeggsManton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Jonathan A BernsteinStanford School of Medicine
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