Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis

Table 1 Percentage of match of CTX terminology extracted from different sources

	Strings/Sentences #	Precision	Recall	F-Measure
Patient Data (ExactMatch)	65	93 %	67 %	78 %
Patient Data (ExactMatch + MetaMap)	65	94 %	94 %	94 %
OMIM (NormalizeString)	23	100 %	100 %	100 %
GeneReviews (MetaMap)	83	88 %	79 %	83 %

The F measure represents 2 (P R)/(P + R), the geometric mean of the precision (P) and recall (R), which is a standard measure for the goodness of information retrieval from documents.

ISSN: 1472-6947