1,224 research outputs found
Implementing a Portable Clinical NLP System with a Common Data Model - a Lisp Perspective
This paper presents a Lisp architecture for a portable NLP system, termed
LAPNLP, for processing clinical notes. LAPNLP integrates multiple standard,
customized and in-house developed NLP tools. Our system facilitates portability
across different institutions and data systems by incorporating an enriched
Common Data Model (CDM) to standardize necessary data elements. It utilizes
UMLS to perform domain adaptation when integrating generic domain NLP tools. It
also features stand-off annotations that are specified by positional reference
to the original document. We built an interval tree based search engine to
efficiently query and retrieve the stand-off annotations by specifying
positional requirements. We also developed a utility to convert an inline
annotation format to stand-off annotations to enable the reuse of clinical text
datasets with inline annotations. We experimented with our system on several
NLP facilitated tasks including computational phenotyping for lymphoma patients
and semantic relation extraction for clinical notes. These experiments
showcased the broader applicability and utility of LAPNLP.Comment: 6 pages, accepted by IEEE BIBM 2018 as regular pape
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
Ensemble attribute profile clustering: discovering and characterizing groups of genes with similar patterns of biological features
BACKGROUND: Ensemble attribute profile clustering is a novel, text-based strategy for analyzing a user-defined list of genes and/or proteins. The strategy exploits annotation data present in gene-centered corpora and utilizes ideas from statistical information retrieval to discover and characterize properties shared by subsets of the list. The practical utility of this method is demonstrated by employing it in a retrospective study of two non-overlapping sets of genes defined by a published investigation as markers for normal human breast luminal epithelial cells and myoepithelial cells. RESULTS: Each genetic locus was characterized using a finite set of biological properties and represented as a vector of features indicating attributes associated with the locus (a gene attribute profile). In this study, the vector space models for a pre-defined list of genes were constructed from the Gene Ontology (GO) terms and the Conserved Domain Database (CDD) protein domain terms assigned to the loci by the gene-centered corpus LocusLink. This data set of GO- and CDD-based gene attribute profiles, vectors of binary random variables, was used to estimate multiple finite mixture models and each ensuing model utilized to partition the profiles into clusters. The resultant partitionings were combined using a unanimous voting scheme to produce consensus clusters, sets of profiles that co-occured consistently in the same cluster. Attributes that were important in defining the genes assigned to a consensus cluster were identified. The clusters and their attributes were inspected to ascertain the GO and CDD terms most associated with subsets of genes and in conjunction with external knowledge such as chromosomal location, used to gain functional insights into human breast biology. The 52 luminal epithelial cell markers and 89 myoepithelial cell markers are disjoint sets of genes. Ensemble attribute profile clustering-based analysis indicated that both lists contained groups of genes with the functional properties of membrane receptor biology/signal transduction and nucleic acid binding/transcription. A subset of the luminal markers was associated with metabolic and oxidoreductase activities, whereas a subset of myoepithelial markers was associated with protein hydrolase activity. CONCLUSION: Given a set of genes and/or proteins associated with a phenomenon, process or system of interest, ensemble attribute profile clustering provides a simple method for collating and sythesizing the annotation data pertaining to them that are present in text-based, gene-centered corpora. The results provide information about properties common and unique to subsets of the list and hence insights into the biology of the problem under investigation
BioConceptVec: creating and evaluating literature-based biomedical concept embeddings on a large scale
Capturing the semantics of related biological concepts, such as genes and
mutations, is of significant importance to many research tasks in computational
biology such as protein-protein interaction detection, gene-drug association
prediction, and biomedical literature-based discovery. Here, we propose to
leverage state-of-the-art text mining tools and machine learning models to
learn the semantics via vector representations (aka. embeddings) of over
400,000 biological concepts mentioned in the entire PubMed abstracts. Our
learned embeddings, namely BioConceptVec, can capture related concepts based on
their surrounding contextual information in the literature, which is beyond
exact term match or co-occurrence-based methods. BioConceptVec has been
thoroughly evaluated in multiple bioinformatics tasks consisting of over 25
million instances from nine different biological datasets. The evaluation
results demonstrate that BioConceptVec has better performance than existing
methods in all tasks. Finally, BioConceptVec is made freely available to the
research community and general public via
https://github.com/ncbi-nlp/BioConceptVec.Comment: 33 pages, 6 figures, 7 tables, accepted by PLOS Computational Biolog
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