6,631 research outputs found
Chi-square-based scoring function for categorization of MEDLINE citations
Objectives: Text categorization has been used in biomedical informatics for
identifying documents containing relevant topics of interest. We developed a
simple method that uses a chi-square-based scoring function to determine the
likelihood of MEDLINE citations containing genetic relevant topic. Methods: Our
procedure requires construction of a genetic and a nongenetic domain document
corpus. We used MeSH descriptors assigned to MEDLINE citations for this
categorization task. We compared frequencies of MeSH descriptors between two
corpora applying chi-square test. A MeSH descriptor was considered to be a
positive indicator if its relative observed frequency in the genetic domain
corpus was greater than its relative observed frequency in the nongenetic
domain corpus. The output of the proposed method is a list of scores for all
the citations, with the highest score given to those citations containing MeSH
descriptors typical for the genetic domain. Results: Validation was done on a
set of 734 manually annotated MEDLINE citations. It achieved predictive
accuracy of 0.87 with 0.69 recall and 0.64 precision. We evaluated the method
by comparing it to three machine learning algorithms (support vector machines,
decision trees, na\"ive Bayes). Although the differences were not statistically
significantly different, results showed that our chi-square scoring performs as
good as compared machine learning algorithms. Conclusions: We suggest that the
chi-square scoring is an effective solution to help categorize MEDLINE
citations. The algorithm is implemented in the BITOLA literature-based
discovery support system as a preprocessor for gene symbol disambiguation
process.Comment: 34 pages, 2 figure
The devices, experimental scaffolds, and biomaterials ontology (DEB): a tool for mapping, annotation, and analysis of biomaterials' data
The size and complexity of the biomaterials literature makes systematic data analysis an excruciating manual task. A practical solution is creating databases and information resources. Implant design and biomaterials research can greatly benefit from an open database for systematic data retrieval. Ontologies are pivotal to knowledge base creation, serving to represent and organize domain knowledge. To name but two examples, GO, the gene ontology, and CheBI, Chemical Entities of Biological Interest ontology and their associated databases are central resources to their respective research communities. The creation of the devices, experimental scaffolds, and biomaterials ontology (DEB), an open resource for organizing information about biomaterials, their design, manufacture, and biological testing, is described. It is developed using text analysis for identifying ontology terms from a biomaterials gold standard corpus, systematically curated to represent the domain's lexicon. Topics covered are validated by members of the biomaterials research community. The ontology may be used for searching terms, performing annotations for machine learning applications, standardized meta-data indexing, and other cross-disciplinary data exploitation. The input of the biomaterials community to this effort to create data-driven open-access research tools is encouraged and welcomed.Preprin
Using Machine Learning and Natural Language Processing to Review and Classify the Medical Literature on Cancer Susceptibility Genes
PURPOSE: The medical literature relevant to germline genetics is growing
exponentially. Clinicians need tools monitoring and prioritizing the literature
to understand the clinical implications of the pathogenic genetic variants. We
developed and evaluated two machine learning models to classify abstracts as
relevant to the penetrance (risk of cancer for germline mutation carriers) or
prevalence of germline genetic mutations. METHODS: We conducted literature
searches in PubMed and retrieved paper titles and abstracts to create an
annotated dataset for training and evaluating the two machine learning
classification models. Our first model is a support vector machine (SVM) which
learns a linear decision rule based on the bag-of-ngrams representation of each
title and abstract. Our second model is a convolutional neural network (CNN)
which learns a complex nonlinear decision rule based on the raw title and
abstract. We evaluated the performance of the two models on the classification
of papers as relevant to penetrance or prevalence. RESULTS: For penetrance
classification, we annotated 3740 paper titles and abstracts and used 60% for
training the model, 20% for tuning the model, and 20% for evaluating the model.
The SVM model achieves 89.53% accuracy (percentage of papers that were
correctly classified) while the CNN model achieves 88.95 % accuracy. For
prevalence classification, we annotated 3753 paper titles and abstracts. The
SVM model achieves 89.14% accuracy while the CNN model achieves 89.13 %
accuracy. CONCLUSION: Our models achieve high accuracy in classifying abstracts
as relevant to penetrance or prevalence. By facilitating literature review,
this tool could help clinicians and researchers keep abreast of the burgeoning
knowledge of gene-cancer associations and keep the knowledge bases for clinical
decision support tools up to date
Improving average ranking precision in user searches for biomedical research datasets
Availability of research datasets is keystone for health and life science
study reproducibility and scientific progress. Due to the heterogeneity and
complexity of these data, a main challenge to be overcome by research data
management systems is to provide users with the best answers for their search
queries. In the context of the 2016 bioCADDIE Dataset Retrieval Challenge, we
investigate a novel ranking pipeline to improve the search of datasets used in
biomedical experiments. Our system comprises a query expansion model based on
word embeddings, a similarity measure algorithm that takes into consideration
the relevance of the query terms, and a dataset categorisation method that
boosts the rank of datasets matching query constraints. The system was
evaluated using a corpus with 800k datasets and 21 annotated user queries. Our
system provides competitive results when compared to the other challenge
participants. In the official run, it achieved the highest infAP among the
participants, being +22.3% higher than the median infAP of the participant's
best submissions. Overall, it is ranked at top 2 if an aggregated metric using
the best official measures per participant is considered. The query expansion
method showed positive impact on the system's performance increasing our
baseline up to +5.0% and +3.4% for the infAP and infNDCG metrics, respectively.
Our similarity measure algorithm seems to be robust, in particular compared to
Divergence From Randomness framework, having smaller performance variations
under different training conditions. Finally, the result categorization did not
have significant impact on the system's performance. We believe that our
solution could be used to enhance biomedical dataset management systems. In
particular, the use of data driven query expansion methods could be an
alternative to the complexity of biomedical terminologies
Do peers see more in a paper than its authors?
Recent years have shown a gradual shift in the content of biomedical publications that is freely accessible, from titles and abstracts to full text. This has enabled new forms of automatic text analysis and has given rise to some interesting questions: How informative is the abstract compared to the full-text? What important information in the full-text is not present in the abstract? What should a good summary contain that is not already in the abstract? Do authors and peers see an article differently? We answer these questions by comparing the information content of the abstract to that in citances-sentences containing citations to that article. We contrast the important points of an article as judged by its authors versus as seen by peers. Focusing on the area of molecular interactions, we perform manual and automatic analysis, and we find that the set of all citances to a target article not only covers most information (entities, functions, experimental methods, and other biological concepts) found in its abstract, but also contains 20% more concepts. We further present a detailed summary of the differences across information types, and we examine the effects other citations and time have on the content of citances
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