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Table 2 Characteristics of the FH dataset.

From: Ontology-guided data preparation for discovering genotype-phenotype relationships

Objects

Patients

125

Attributes

Phenotype

12

304

Genotype

292

  
The FH dataset results from a clinical study relative to Familial Hypercholesterolemia. Its size and composition are described in Table 2. Phenotype refers to phenotypic attributes including for instance LDL concentration in blood. Genotype attributes include 289 genomic variations of the LDLR gene and 3 attributes relative to the presence of mutations in 3 other genes.