Semantic Web-Based Information Systems: State-of-the-Art ...

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HL7 Clinical Genomics Standard Specifications 267 Table 4. Family history XML sample: The root element fragment < d extens on=" .00 -SUBJ"/> < d extens on=" .00 -NMTH"/> < d extens on=" .00 -NFTH"/> … Table 5. Family history XML sample: The daughter fragment < d extens on=" .0 -SUBJ"/> < d extens on=" .00 -NMTH"/> < d extens on=" .0 -NFTH"/> < nd v dualAllele> breast cancer , early onset … Table 6. Family history XML sample: The sequencing fragment GCTCCCA CTCCATGAGG TATTTCTTCA CATCCGTGTC CCGGCCCGGC CGCGGGGAGC CCCGCTTCAT CGCCGTGGGC TACGTGGACG ACACGCAGTT CGTGCGGTTC GACAGCGACG CCGCGAGCCA GAGGATGGAG CCGCGGGCGC CGTGGATAGA GCAGGAGGGG CCGGAGTATT GGGACCAGGA GACACGGAAT GTGAAGGCCC AGTCACAGAC TGACCGAGTG GACCTGGGGA CCCTGCGCGG CTACTACAAC CAGAGCGAGG CCG … Copyright © 2007, Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. is prohibited.
Shabo & Hughes Table 7. Family history XML sample: The bubbling-up fragment < nterpretat onCode code="DELETERIOUS"/> < d root=" . . 0. . " extens on="d agnos s "/> … SNP and representing it as a deleterious mutation. The mutation is then associated with clinical phenotypes (clinical observation from the patient medical records). Note that only the observation id appears in this XML instance, because it is represented by the ISO OID (object identifier) standard, which ensures uniqueness of object identifiers across systems and organizations and thus enables services to resolve the location of an object such as this patient’s diagnosis and to get it from where it is being stored. The value element is the end of the encapsulation portion, because the raw genomic data is encapsulated in the value attribute of the HL7 sequence object. The reference tag allows referencing back to the BSML Isoform element. This referencing mechanism enables the association of bubbled-up objects like the 185delAG mutation with encapsulated data as evidence. On the other hand, the mutation object is associated with clinical information to enable its usability within EHR systems. Copyright © 2007, Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. is prohibited.
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Semantic Web-Based Information Syst
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Semantic Web-Based Information Syst
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Chapter.VIII Querying.the.Web.Recon
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the semantics in the Semantic Web.
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the conventional Web, and the emerg
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Chapter.I Semant cs for the Semant
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Semant cs for the Semant c Web and
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Entity Identification/Disambiguatio
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Question Answering Systems Semant c
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The Human Semant c Web tion between
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• Databases with entry-portals
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Conceptual.Modeling The Human Seman
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The Human Semant c Web in relations
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26 Between February 2001 and Februa
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Ontology Creat on Methodolog es obt
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Query ng the Web Recons dered allow
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ib {{ book {{ title { “Data on th
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Query ng the Web Recons dered Furch
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Page 314 and 315: About.the.Authors About the Authors
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semantic e-business 214 semantic in
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