Gendoo

Gendoo maps Medical Subject Headings (MeSH) to Online Mendelian Inheritance in Man (OMIM) entries extracted from MEDLINE to generate ontology-based disease feature profiles for interpretation and comparative analysis.

Key Features:

• Integration with OMIM: Maps MeSH terms to OMIM entries, using OMIM as the foundational dataset for human genes and genetic disorders.
• MeSH Vocabulary Utilization: Employs MeSH to categorize disease-related data into feature profiles that include associated drugs, biological phenomena, and anatomical terms.
• Automated Data Processing: Processes 1,760,054 OMIM–MeSH pairs derived from the complete set of MEDLINE articles to enable large-scale computerized analysis.
• Feature Visualization: Generates visualized feature profiles to aid distinction between disease types and interpretation of molecular and clinical aspects.
• Comparative Analysis: Performs profile comparisons, exemplified by type 1 versus type 2 diabetes where type 1 shows an autoimmune signal (P-value = 4.55 x 10^(-5)) and type 2 shows obesity-related characteristics (P-value = 1.18 x 10^(-15)).

Scientific Applications:

• Omics research: Summarizes disease feature profiles to support interpretation of molecular mechanisms underlying complex phenotypes.
• Genetic disorder characterization: Facilitates analysis of phenotype–feature associations across genetic diseases using ontology-based profiles.
• Therapeutic target exploration: Enables exploration of drug-related MeSH terms linked to OMIM entries to inform potential therapeutic hypotheses.
• Clinical and molecular comparative analyses: Supports comparative studies that distinguish molecular and clinical aspects of disease subtypes.

Methodology:

Extracts and associates MeSH terms with OMIM entries from MEDLINE articles, processes 1,760,054 OMIM–MeSH pairs to generate ontology-based feature profiles, visualizes those profiles, and enables comparative analyses.