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

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.
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