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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
2018
Nucleic Acids Research
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The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health ...
The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. ...
The Human Phenotype Ontology (HPO) provides the most comprehensive resource for computational deep phenotyping and has become the de facto standard for deep phenotyping in the field of rare disease--whether ...
doi:10.1093/nar/gky1105
pmid:30476213
pmcid:PMC6324074
fatcat:rsd6cv3i7jgjrgidg5ywtnxowa
An ontological foundation for ocular phenotypes and rare eye diseases
2019
Orphanet Journal of Rare Diseases
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Here, we discuss the development of the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings ...
They can be used to provide robust terminology standards and to enhance data interoperability. ...
The ERN-EYE remains committed to further improving these resources and future plans include working on "layperson" terms for ocular phenotypes (so that patients can also use HPO) and on annotating each ...
doi:10.1186/s13023-018-0980-6
pmid:30626441
pmcid:PMC6327432
fatcat:sek4to3renftznolg2mkgat37y
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
2019
Nucleic Acids Research
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Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. ...
The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. ...
ACKNOWLEDGEMENTS We would like to thank the many people who have contributed to the improvements and updates we have reported here, including (but not limited to) Donna Maglott, Anne Pariser and Janine ...
doi:10.1093/nar/gkz997
pmid:31701156
pmcid:PMC7056945
fatcat:tramusfgz5eufn2aguuzzasafi
Characterizing Long COVID: Deep Phenotype of a Complex Condition
[article]
2021
medRxiv
pre-print
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Phenotype Ontology (HPO) terms. ...
the lack of a standard for denoting the many phenotypic manifestations of long COVID. ...
In the field of rare disease, the Human Phenotype Ontology (HPO) has become an international standard for deep phenotyping that enables integrated computational analysis of genotype and phenotype for diagnostics ...
doi:10.1101/2021.06.23.21259416
fatcat:h7irfeu7uvgmfigektbjuoocby
The Sickle Cell Disease Ontology: enabling universal sickle cell-based knowledge representation
2019
Database: The Journal of Biological Databases and Curation
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The SCD Ontology (SCDO), which is a community-driven integrative and universal knowledge representation system for SCD, overcomes this issue by providing a controlled vocabulary developed by a group of ...
Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. ...
Acknowledgements The development of the SCDO is supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health under ...
doi:10.1093/database/baz118
pmid:31769834
pmcid:PMC6878945
fatcat:ho4ie6nrxba27mbwhesu54khee
Race Differences in Intelligence: An Evolutionary Analysis. By Richard Lynn. Pp 322+xiii. (Washington Summit Publishers, Augusta, GA, USA, 2006.) $17.95, ISBN 978-1-59368-020-6, hardback; ISBN 978-1-59368-021-3, paperback
2006
Journal of Biosocial Science
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On the other hand, perhaps the book's title attracts mainly those who already long for a more open The Metaphysics of Apes: Negotiating the Animal-Human Boundary. By Raymond
Corbey. Pp. 227. ...
Metaphysics of apes here means that 'apes have always been assigned a certain metaphysical or ontological -these two terms are used synonymously -status in the grand scheme of things'. ...
doi:10.1017/s0021932006221539
fatcat:2dquvxgpovgcxbsdvw6v24sqny
Bias in ontologies – a preliminary assessment
[article]
2021
arXiv
pre-print
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Logical theories in the form of ontologies and similar artefacts in computing and IT are used for structuring, annotating, and querying data, among others, and therewith influence data analytics regarding ...
Algorithmic bias is a well-known notion, but what does bias mean in the context of ontologies that provide a structuring mechanism for an algorithm's input? ...
With a benefit of the doubt, one might argue they may be layperson commonsense assumptions, but these would then be rather serious ones for an ontology for scientific literature. ...
arXiv:2101.08035v1
fatcat:qfrbjyoprbgg5gl26v3inscvoq
"Designer Babies" and "Playing God": Metaphor, Genome Editing, and Bioethics in Popular Science Texts
2019
Lingue Culture Mediazioni
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group
would also have to
wrestle with where to
draw the line between
ethically acceptable and
unacceptable uses
genetic enhancement
as just the latest step in
the struggle to improve
human life ...
As for the method, the articles making up the corpus were initially found by using the advanced search tool of both websites, and looking for the key words gene, genetic, genetics, and genome. ...
doi:10.7358/lcm-2019-001-matt
fatcat:7kd47rv5yzgunlcf4zmspdroti
Implications: Human Cognition and Communication and the Emergence of the Cognitive Society
[chapter]
2013
Science Policy Reports
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Use of molecular and personalized information to enhance treatment of disease and improve human cognition 2. ...
, while at the same time offering up new potential for an enhanced human response to global challenges. ...
doi:10.1007/978-3-319-02204-8_6
fatcat:ffdach5nbbbl5ohds3u44qr3oe
Towards standardization guidelines for in silico approaches in personalized medicine
2020
Journal of Integrative Bioinformatics
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Further hurdles are associated with legal and ethical issues surrounding the use of personal/patient data across disciplines and borders. ...
Reasons for this obstacle are the inherent heterogeneity of data sources and the lack of broadly accepted standards. ...
The primary labels use medical terminology used by clinicians and researchers. These are complemented with laypersons synonyms. ...
doi:10.1515/jib-2020-0006
pmid:32827396
pmcid:PMC7756614
fatcat:c4vye52o7rcu5bayint423gwki
Critical Essay: Organizational cognitive neuroscience drives theoretical progress, or: The curious case of the straw man murder
2017
Human Relations
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We put forward a more positive case for OCN methodologies and data, as well as clarifying exactly what OCN really means, and its consequences for the development of strong management theory. ...
We also find his distinction between demand and supply side forces helpful as an analytical framework identifying the momentum for the contemporary production of management theory. ...
Further details of the various activities that are delivered by the International Neuroethics Society can be found here: http://www.neuroethicssociety.org/. ...
doi:10.1177/0018726716684381
fatcat:fu27lhnxdbbgdp3gtpa5lup5ea
An ontological foundation for ocular phenotypes and rare eye diseases
2019
Preserved Fulltext
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Here, we discuss the development of the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings ...
They can be used to provide robust terminology standards and to enhance data interoperability. ...
The ERN-EYE remains committed to further improving these resources and future plans include working on "layperson" terms for ocular phenotypes (so that patients can also use HPO) and on annotating each ...
doi:10.17863/cam.36727
fatcat:szyfsgnvvbgulhgvy3rgzq3oqi
The ontogenetic evolution of verbal behavior
2020
European Journal of Behavior Analysis
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Merging and enhancing Skinner's work on selection as a cause of behavior change on the one hand and his work on verbal behavior on the other provides a theoretical basis for placing verbal behavior in ...
The article proposes a framework that helps us understand selection processes in conversations. ...
useful feedback during the editorial process. ...
doi:10.1080/15021149.2019.1710034
fatcat:2dzvfe7my5bbjcmhnewfwrtkf4
When CRISPR Meets Art: The Experience of Relationality Through the Affective Agency of Matter
2018
Leonardo: Journal of the International Society for the Arts, Sciences and Technology
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While the visible veins in the flower petals are inherent to the plant's phenotype, by drawing attention to the relation between Kac's own blood -the expression of his used genetic sequence is part of ...
sense of its ontology. ...
For that matter, the notion of posthuman is a material agent reconfiguring the world. ...
doi:10.1162/leon_a_01665
fatcat:k7kjhmaowzcytigaqa4ypkciia
Justice from an Interdisciplinary Perspective: The Impact of the Revolution in Human Sciences on Peace Research and International Relations
[chapter]
2019
Justice and Peace
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We are confronted with an ontological revolution that forces us to reconstruct our image of the human (Crawford 2011) . ...
They cannot be used as ontological templates to decipher the empirical world. ...
If material is not included in the chapter's Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly ...
doi:10.1007/978-3-658-25196-3_2
fatcat:iyxr3ju5o5ao7m2bsgtobstpgi
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