Table 5_Bridging bone and muscle: ontology-driven prioritization of candidate genes at the osteoporosis–sarcopenia interface by gene ontology reverse lookup.xlsx

This study applied a transparent, hypothesis-generating annotation-based framework to prioritize candidate genes at the osteoporosis–sarcopenia interface.</p>Methods<p>GOReverseLookup was applied to manually curated Gene Ontology term sets representing biological mechanisms relevant to osteoporosis and sarcopenia.

A curated set of 367 GO terms representing key disease mechanisms served as input. Using Fisher’s exact testing with Benjamini–Hochberg correction and predefined ortholog-propagation settings incorporating H. sapiens, M. musculus, R. norvegicus, D. rerio, and X. tropicalis annotations, the pipeline prioritized genes meeting the significance criterion for both curated states of interest. Prioritized candidates were subsequently contextualized using targeted literature assessment, DisGeNET disease-association scores, Expression Atlas tissue-expression data and KEGG pathway analysis.</p>Results<p>The primary analysis identified 37 candidate genes meeting the predefined significance criterion for both osteoporosis- and sarcopenia-related states of interest.