ReviewPLoS genetics2014
Phenotype ontologies and cross-species analysis for translational research.
Review in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed.
- Data sharing and ontology use among agricultural genetics, genomics, and breeding databases and resources of the Agbiodata Consortium.Database : the journal of biological databases and curation · 2023Article
- Bridging mouse and human anatomies; a knowledge-based approach to comparative anatomy for disease model phenotyping.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Knockout mice are an important tool for human monogenic heart disease studies.Disease models & mechanisms · 2023Article
- Article
- Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes.EBioMedicine · 2023Article
- Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs.medRxiv : the preprint server for health sciences · 2022Article
- Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Genome-wide analysis reveals molecular convergence underlying domestication in 7 bird and mammals.BMC genomics · 2020Article
- Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.Current protocols in human genetics · 2019Article
- Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders.Yonago acta medica · 2019Article
- Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.Nature communications · 2019Article
- Model validity for preclinical studies in precision medicine: precisely how precise do we need to be?Mammalian genome : official journal of the International Mammalian Genome Society · 2019Article
- Review: New sensors and data-driven approaches-A path to next generation phenomics.Plant science : an international journal of experimental plant biology · 2019Review
- Computational aspects underlying genome to phenome analysis in plants.The Plant journal : for cell and molecular biology · 2019Review
- Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance.Cell reports · 2018Article
- A new synonym-substitution method to enrich the human phenotype ontology.BMC bioinformatics · 2017Article
- Diverse type 2 diabetes genetic risk factors functionally converge in a phenotype-focused gene network.PLoS computational biology · 2017Article
- The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.American journal of human genetics · 2017Article
- The Human Phenotype Ontology in 2017.Nucleic acids research · 2017Review
- The digital revolution in phenotyping.Briefings in bioinformatics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
The use of model organisms as tools for the investigation of human genetic variation has significantly and rapidly advanced our understanding of the aetiologies underlying hereditary traits. However, while equivalences in the DNA sequence of two species may be readily inferred through evolutionary models, the identification of equivalence in the phenotypic consequences resulting from comparable genetic variation is far from straightforward, limiting the value of the modelling paradigm. In this review, we provide an overview of the emerging statistical and computational approaches to objectively identify phenotypic equivalence between human and model organisms with examples from the vertebrate models, mouse and zebrafish. Firstly, we discuss enrichment approaches, which deem the most frequent phenotype among the orthologues of a set of genes associated with a common human phenotype as the orthologous phenotype, or phenolog, in the model species. Secondly, we introduce and discuss computational reasoning approaches to identify phenotypic equivalences made possible through the development of intra- and interspecies ontologies. Finally, we consider the particular challenges involved in modelling neuropsychiatric disorders, which illustrate many of the remaining difficulties in developing comprehensive and unequivocal interspecies phenotype mappings.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.