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committedApr 25, 2016
put some paper-refs
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‎software-phenix.md

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phenotypic profile of the individual being investigated, based on analysis
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powered by the Human Phenotype Ontology (HPO).
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The method has been published in Science Translational Medicine. The tool is available on [this website](http://compbio.charite.de/PhenIX/).
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The method has been published in Science Translational Medicine:
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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
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Zemojtel T*, Köhler S*, Mackenroth L*, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN.
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Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262.
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The tool is available on [this website](http://compbio.charite.de/PhenIX/).
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‎software-phenomizer.md

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The software is [available here](http://compbio.charite.de/phenomizer).
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There is also a beta-version of Phenomizer-Orphanet available. Test it and give feedback here: [http://compbio.charite.de/phenomizer_orphanet](http://compbio.charite.de/phenomizer_orphanet).
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Phenomizer has been published here:
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Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
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Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN.
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Am J Hum Genet. 2009 Oct;85(4):457-64. doi: 10.1016/j.ajhg.2009.09.003.
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