PhenoDigm: analyzing curated annotations to associate animal models with human diseases - PubMed (original) (raw)

The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics.

Matentzoglu N, Bello SM, Stefancsik R, Alghamdi SM, Anagnostopoulos AV, Balhoff JP, Balk MA, Bradford YM, Bridges Y, Callahan TJ, Caufield H, Cuzick A, Carmody LC, Caron AR, de Souza V, Engel SR, Fey P, Fisher M, Gehrke S, Grove C, Hansen P, Harris NL, Harris MA, Harris L, Ibrahim A, Jacobsen JOB, Köhler S, McMurry JA, Munoz-Fuentes V, Munoz-Torres MC, Parkinson H, Pendlington ZM, Pilgrim C, Robb SM, Robinson PN, Seager J, Segerdell E, Smedley D, Sollis E, Toro S, Vasilevsky N, Wood V, Haendel MA, Mungall CJ, McLaughlin JA, Osumi-Sutherland D. Matentzoglu N, et al. bioRxiv [Preprint]. 2024 Sep 22:2024.09.18.613276. doi: 10.1101/2024.09.18.613276. bioRxiv. 2024. PMID: 39345458 Free PMC article. Preprint.

Unraveling druggable cancer-driving proteins and targeted drugs using artificial intelligence and multi-omics analyses.

López-Cortés A, Cabrera-Andrade A, Echeverría-Garcés G, Echeverría-Espinoza P, Pineda-Albán M, Elsitdie N, Bueno-Miño J, Cruz-Segundo CM, Dorado J, Pazos A, Gonzáles-Díaz H, Pérez-Castillo Y, Tejera E, Munteanu CR. López-Cortés A, et al. Sci Rep. 2024 Aug 21;14(1):19359. doi: 10.1038/s41598-024-68565-7. Sci Rep. 2024. PMID: 39169044 Free PMC article.

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A. Lagorce D, et al. Eur J Hum Genet. 2024 Feb;32(2):182-189. doi: 10.1038/s41431-023-01486-7. Epub 2023 Nov 6. Eur J Hum Genet. 2024. PMID: 37926714 Free PMC article.