An ontology approach to comparative phenomics in plants Applied Ontology Phenotype informatics Year: 2015 Venue: Plant Methods Authors: Anika Oellrich, Ramona Walls, Ethalinda Cannon, Steven Cannon, Laurel Cooper, Jack Gardiner, Georgios Gkoutos, Lisa Harper, Mingze He, Robert Hoehndorf, Pankaj Jaiswal, Scott Kalberer, John Lloyd, David Meinke, Naama Menda, Laura Moore, Rex Nelson, Anuradha Pujar, Carolyn Lawrence, Eva Huala DOI: 10.1186/s13007-015-0053-y Abstract BACKGROUND:Plant phenotype datasets include many different types of data, formats, and terms from specialized vocabularies. Because these datasets were designed for different audiences, they frequently contain language and
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics Phenotype informatics Biomedical Informatics Year: 2015 Venue: Nature Genetics Authors: Martin Hrab\ve de Angelis, George Nicholson, Mohammed Selloum, Jacqueline K White, Hugh Morgan, Ramiro Ramirez-Solis, Tania Sorg, Sara Wells, Helmut Fuchs, Martin Fray, David J Adams, Niels C Adams, Thure Adler, Antonio Aguilar-Pimentel, Dalila Ali-Hadji, Gregory Amann, Philippe Andr\'e, Sarah Atkins, Aurelie Auburtin, Abdel Ayadi, Julien Becker, Lore Becker, Elodie Bedu, Raffi Bekeredjian, Marie-Christine Birling, Andrew Blake, Joanna Bottomley, Michael R Bowl, V\'eronique Brault, Dirk H Busch, James N Bussell, Julia Calzada-Wack, Heather Cater
Best behaviour? Ontologies and the formal description of animal behaviour Applied Ontology Phenotype informatics Year: 2015 Venue: Mammalian Genome Authors: Georgios V Gkoutos, Robert Hoehndorf, Loukia Tsaprouni, Paul N Schofield DOI: 10.1007/s00335-015-9590-y Abstract The development of ontologies for describing animal behavior has proved to be one of the most difficult of all scientific knowledge domains. Ranging from neurological processes to human emotions the range and scope needed for such ontologies is highly challenging, but if data integration and computational tools such as automated reasoning are to be fully applied in this important area the underlying principles of these ontologies need to
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs) Rare disease Phenotype informatics Year: 2025 Venue: Human Genetics Authors: Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Yexian Zhang, Qi Li, Maggie Haitian Wang, Giulia Babbi, Samuele Bovo, Pier Luigi Martelli, Rita Casadio, Azza Althagafi, Sumyyah Toonsi, Maxat Kulmanov, Robert Hoehndorf, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Su Xian, Wesley Surento, Vikas Pejaver, Sean D. Mooney, Uma Sunderam, Rajgopal Srinivasan, Alessandra Murgia, Damiano Piovesan, Silvio C. E. Tosatto, Emanuela Leonardi DOI: 10.1007/s00439-024-02722-w Abstract Abstract The Genetics of
Contribution of model organism phenotypes to the computational identification of human disease genes Rare disease Phenotype informatics Semantic similarity Year: 2022 Venue: Disease Models & Mechanisms Authors: Sarah Alghamdi, Paul N. Schofield, Robert Hoehndorf DOI: 10.1242/dmm.049441 Abstract Computing phenotypic similarity helps identify new disease genes and diagnose rare diseases. Genotype-phenotype data from orthologous genes in model organisms can compensate for lack of human data and increase genome coverage. In the past decade, cross-species phenotype comparisons have proven valuble, and several ontologies have been developed for this purpose. The relative contribution of different model organisms to computational identification of
