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Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain
2014
Journal of Biomedical Informatics
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We propose a clear definition for characteristic phenotypes, we experiment with a novel, class association rule mining algorithm and we discuss our lessons learned from both an automatic and human-based ...
In this paper we aim to deal with each of these problems in the context provided by the skeletal dysplasia domain. ...
Acknowledgments This research is funded by the Australian Research Council (ARC) under the Linkage grant SKELETOME -LP100100156 and the Discovery Early Career Researcher Award (DECRA) -DE120100508. ...
doi:10.1016/j.jbi.2013.12.001
pmid:24333481
fatcat:sdw4cb7tvrantged2ja2vkhq74
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
2012
BMC Bioinformatics
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Conclusions: The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. ...
SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience-to advance the body of knowledge in the skeletal dysplasia field. ...
Especial thanks also to Tania Tudorache, Timothy Redmond and Matthew Horridge for the extremely useful feed-back on the logical correctness of the class axioms and of the grounding in BFO. ...
doi:10.1186/1471-2105-13-50
pmid:22449239
pmcid:PMC3338382
fatcat:flu5hsohtvahhmd5kwfec4es6u
Decision Support Methods for Finding Phenotype — Disorder Associations in the Bone Dysplasia Domain
2012
PLoS ONE
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We propose a solution that combines association rule mining with the Dempster-Shafer theory (DST) to compute probabilistic associations between sets of clinical features and disorders, which can then serve ...
A lack of mature domain knowledge and well established guidelines makes the medical diagnosis of skeletal dysplasias (a group of rare genetic disorders) a very complex process. ...
The authors would also like to express their gratitude for receiving access to the ESDN data by thanking the ESDN Clinical and Radiographic Management Group (ESDN-CRMG, http://www.esdn.org/). ...
doi:10.1371/journal.pone.0050614
pmid:23226331
pmcid:PMC3511538
fatcat:7ci5ixiehrh5lc4qy6eg6jw2ty
Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain
2014
Journal of Biomedical Semantics
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measures in the process of association rule mining. ...
We apply the method in our domain of interest -bone dysplasias -using the core ontologies characterising it and an annotated dataset of patient clinical summaries, with the goal of discovering implicit ...
This research is funded by the Australian Research Council (ARC) under the Linkage grant SKELETOME -LP100100156 and the Discovery Early Career Researcher Award (DECRA) -DE120100508.
Author details ...
doi:10.1186/2041-1480-5-8
pmid:24499729
pmcid:PMC3936824
fatcat:grysne55e5dnvl6nmhwnu2aryy
Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain
[chapter]
2011
Lecture Notes in Computer Science
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In this paper we report on our on-going efforts in building SKELETOME -a community-driven knowledge curation platform for the skeletal dysplasia domain. ...
SKELETOME introduces an ontologydriven knowledge engineering cycle that supports the continuous evolution of the domain knowledge. ...
Acknowledgments The work presented in this paper is supported by the Australian Research Council (ARC) under the Linkage grant SKELETOME -LP100100156. ...
doi:10.1007/978-3-642-25093-4_6
fatcat:2ei5szrkjbdjllx76mdb4yygy4
Capturing domain knowledge from multiple sources: the rare bone disorders use case
2015
Journal of Biomedical Semantics
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We exemplify the approach in the rare bone disorders domain by proposing the Rare Bone Disorders Ontology (RBDO). ...
The community-driven ontology curation process, however, ignores the possibility of multiple communities building, in parallel, conceptualisations of the same domain, and thus providing slightly different ...
Acknowledgements This research is funded by the Australian Research Council (ARC) under the Discovery Early Career Researcher Award (DECRA) -DE120100508.
Author details ...
doi:10.1186/s13326-015-0008-2
pmid:25926964
pmcid:PMC4414390
fatcat:pkfol7iopjbqfiydyb7kikrdqa
Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?
2019
Genes
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The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. ...
Of the more than 7000 RDs described worldwide, only 5% have a treatment. ...
The characteristic feature mining algorithm (CFML) has uncovered the key features of 15 bone dysplasia disorders resorting to the European skeletal dysplasia network. ...
doi:10.3390/genes10120978
pmid:31783696
pmcid:PMC6947640
fatcat:wzghxueer5cahkjyxdwq2g24du
'There and Back Again'—Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
2020
Genes
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In this review, we discuss research approaches to uncover the genetic architecture of PAH starting with forward phenotyping, which in a research setting should focus on stable intermediate phenotypes, ...
causative role of bone morphogenetic protein receptor type II (BMPR2) mutations shed new light on the pathogenesis of PAH. ...
Conversely, in the composite class model, a variant in one gene is sufficient to produce the phenotype, but an additional variant in a second gene impacts the disease phenotype or alters the age of onset ...
doi:10.3390/genes11121408
pmid:33256119
fatcat:cdi2k24anfd6tjsulnslgqwg5i
Matrix Biology Europe - July 2018 Meeting Celebrating 50 years of Federation of European Connective Tissue Societies Meetings(organised by the British Society for Matrix Biology and the University of Manchester Wellcome Trust Centre for Cell-Matrix Resear
2018
International journal of experimental pathology (Print)
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This study highlights the potential for targeting CSCs via mechanical property of tumour microenvironment as promising therapeutic strategy that inhibit tumour progression. ...
PDAC encapsulated in stiffer hydrogel showed the high chemotherapy resistance. ...
Further database mining identified several cancer-associated point mutations in the basigin membrane proximal region. ...
doi:10.1111/iep.12294
fatcat:tawvze6nore3vm4mwvo54y2nx4
A case-based assistant for diagnosis and analysis of dysmorphic syndromes
1995
Medical Informatics
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There are no firm rules to deter mine how a concept or category inform ation is constructed. ...
any object class and a t t r i b u t e is any of the slots associated with th a t class. ...
A case presented later in the order which evcduates positively against the node may also have common features with one or more of the cases stored at that group (which were not included on the node description ...
doi:10.3109/14639239509025350
pmid:8569305
fatcat:yw6qpzunjrecxfsrrhabvtdoti
ICL670A
[chapter]
2017
Encyclopedia of Cancer
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and mutation patterns and to make inferences about possible causes of cancer; and molecular genetics, to study genotype/phenotype associations. ...
The phenotypes associated with the complete loss of TOR function are remarkably similar to phenotypes associated with mutations in the insulin-like receptor (Inr) pathway. ...
Characteristics History Initial interest in isoflavones is based on the history of their discovery in the 1940s. Animals grazing on clover-rich pastures became infertile. ...
doi:10.1007/978-3-662-46875-3_101180
fatcat:66hbagjkhzalvc3i2pzbhoe7aa
Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations
2019
European Journal of Human Genetics
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Few of the 140 loci displayed nominally significant associations with their target biomarker in the Greek and Ugandan samples. The polygenic scores were associated I. D'Atri 1 , L. Li 2 , X. ...
We identified a homozygous missense alteration (c.75C>A, p.D25E) in the CLCC1 gene, which encodes a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal ...
In summary, we described the first MAU2 mutation in a patient with characteristic CdLS phenotype. ...
doi:10.1038/s41431-019-0407-4
fatcat:3d23n3msz5fulchpvpfipze6pq
Melanoma-Associated Retinopathy
[chapter]
2011
Encyclopedia of Cancer
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Acknowledgments We are grateful to the Medical Research Council, UK (MCL and RVT) and the Portuguese Foundation for Science and Technology (BD/12415/2003) (MCL) for support, and to Mrs. ...
Acknowledgment This work was supported by a grant from the Canadian Institutes of Health Research. ...
Merlin binds directly to the actin cytoskeleton via two actin-binding sites located in its N-terminal domain. ...
doi:10.1007/978-3-642-16483-5_3612
fatcat:o4qtgpwxtna5haqsa57taks5j4
Mitotic Arrest-Deficient Protein 1
[chapter]
2011
Encyclopedia of Cancer
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Acknowledgments We are grateful to the Medical Research Council, UK (MCL and RVT) and the Portuguese Foundation for Science and Technology (BD/12415/2003) (MCL) for support, and to Mrs. ...
Acknowledgment This work was supported by a grant from the Canadian Institutes of Health Research. ...
Merlin binds directly to the actin cytoskeleton via two actin-binding sites located in its N-terminal domain. ...
doi:10.1007/978-3-642-16483-5_3778
fatcat:tin4mbocj5h2tn5bngkz7zp27a
Major Vault Protein
[chapter]
2011
Encyclopedia of Cancer
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Acknowledgments We are grateful to the Medical Research Council, UK (MCL and RVT) and the Portuguese Foundation for Science and Technology (BD/12415/2003) (MCL) for support, and to Mrs. ...
Acknowledgment This work was supported by a grant from the Canadian Institutes of Health Research. ...
Merlin binds directly to the actin cytoskeleton via two actin-binding sites located in its N-terminal domain. ...
doi:10.1007/978-3-642-16483-5_3504
fatcat:gitkzcftfvhlbda3ptisojtily
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