Figure 2  Overview of CR and Bioinformatic Analysis
The analysis was performed in several major steps. (1) Bio-LarK was used to analyze the PubMed-MEDLINE 2014 corpus, which resulted in a total of 5,136,645 abstracts annotated with MeSH terms and phenotypic features. (2) For each of 3,145 resulting diseases, the frequency and specificity of HPO terms found in the abstract were used for inferring phenotypic annotations. (3) These annotations were used for producing disease models for each of the diseases. (4) Medical validation of the annotations was performed on the basis of disease, phenotype, and SNP annotations in GWAS Central for phenotype sharing in common disease. (5) Validation with OMIM, Orphanet, and DO was used for assessing phenotype sharing between rare and common diseases linked to the same locus.