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Background: The semantics of entities extracted from a clinical text can be dramatically altered by modifiers, including entity negation, uncertainty, conditionality, severity, and subject. Existing models for determining modifiers of clinical entities involve regular expression or features weights that are trained independently for each modifier. Methods: We develop and evaluate a multi-task transformer architecture design where modifiers are learned and predicted jointly using the publicly available SemEval 2015 Task 14 corpus and a new Opioid Use Disorder (OUD) data set that contains modifiers shared with SemEval as well as novel modifiers specific for OUD. We evaluate the effectiveness of our multi-task learning approach versus previously published systems and assess the feasibility of transfer learning for clinical entity modifiers when only a portion of clinical modifiers are shared. Results: Our approach achieved state-of-the-art results on the ShARe corpus from SemEval 2015 Task 14, showing an increase of 1.1% on weighted accuracy, 1.7% on unweighted accuracy, and 10% on micro F1 scores. Conclusions: We show that learned weights from our shared model can be effectively transferred to a new partially matched data set, validating the use of transfer learning for clinical text modifiers. [ABSTRACT FROM AUTHOR]

Background: A huge amount of research is carried out nowadays in Artificial Intelligence to propose automated ways to analyse medical data with the aim to support doctors in delivering medical diagnoses. However, a main issue of these approaches is the lack of transparency and interpretability of the achieved results, making it hard to employ such methods for educational purposes. It is therefore necessary to develop new frameworks to enhance explainability in these solutions. Results: In this paper, we present a novel full pipeline to generate automatically natural language explanations for medical diagnoses. The proposed solution starts from a clinical case description associated with a list of correct and incorrect diagnoses and, through the extraction of the relevant symptoms and findings, enriches the information contained in the description with verified medical knowledge from an ontology. Finally, the system returns a pattern-based explanation in natural language which elucidates why the correct (incorrect) diagnosis is the correct (incorrect) one. The main contribution of the paper is twofold: first, we propose two novel linguistic resources for the medical domain (i.e, a dataset of 314 clinical cases annotated with the medical entities from UMLS, and a database of biological boundaries for common findings), and second, a full Information Extraction pipeline to extract symptoms and findings from the clinical cases and match them with the terms in a medical ontology and to the biological boundaries. An extensive evaluation of the proposed approach shows the our method outperforms comparable approaches. Conclusions: Our goal is to offer AI-assisted educational support framework to form clinical residents to formulate sound and exhaustive explanations for their diagnoses to patients. [ABSTRACT FROM AUTHOR]

Background: Laboratory data can provide great value to support research aimed at reducing the incidence, prolonging survival and enhancing outcomes of cancer. Data is characterized by the information it carries and the format it holds. Data captured in Alberta's biomarker laboratory repository is free text, cluttered and rouge. Such data format limits its utility and prohibits broader adoption and research development. Text analysis for information extraction of unstructured data can change this and lead to more complete analyses. Previous work on extracting relevant information from free text, unstructured data employed Natural Language Processing (NLP), Machine Learning (ML), rule-based Information Extraction (IE) methods, or a hybrid combination between them. Methods: In our study, text analysis was performed on Alberta Precision Laboratories data which consisted of 95,854 entries from the Southern Alberta Dataset (SAD) and 6944 entries from the Northern Alberta Dataset (NAD). The data covers all of Alberta and is completely population-based. Our proposed framework is built around rule-based IE methods. It incorporates topics such as Syntax and Lexical analyses to achieve deterministic extraction of data from biomarker laboratory data (i.e., Epidermal Growth Factor Receptor (EGFR) test results). Lexical analysis compromises of data cleaning and pre-processing, Rich Text Format text conversion into readable plain text format, and normalization and tokenization of text. The framework then passes the text into the Syntax analysis stage which includes the rule-based method of extracting relevant data. Rule-based patterns of the test result are identified, and a Context Free Grammar then generates the rules of information extraction. Finally, the results are linked with the Alberta Cancer Registry to support real-world cancer research studies. Results: Of the original 5512 entries in the SAD dataset and 5017 entries in the NAD dataset which were filtered for EGFR, the framework yielded 5129 and 3388 extracted EGFR test results from the SAD and NAD datasets, respectively. An accuracy of 97.5% was achieved on a random sample of 362 tests. Conclusions: We presented a text analysis framework to extract specific information from unstructured clinical data. Our proposed framework has shown that it can successfully extract relevant information from EGFR test results. [ABSTRACT FROM AUTHOR]

Background: In the healthcare domain today, despite the substantial adoption of electronic health information systems, a significant proportion of medical reports still exist in paper-based formats. As a result, there is a significant demand for the digitization of information from these paper-based reports. However, the digitization of paper-based laboratory reports into a structured data format can be challenging due to their non-standard layouts, which includes various data types such as text, numeric values, reference ranges, and units. Therefore, it is crucial to develop a highly scalable and lightweight technique that can effectively identify and extract information from laboratory test reports and convert them into a structured data format for downstream tasks. Methods: We developed an end-to-end Natural Language Processing (NLP)-based pipeline for extracting information from paper-based laboratory test reports. Our pipeline consists of two main modules: an optical character recognition (OCR) module and an information extraction (IE) module. The OCR module is applied to locate and identify text from scanned laboratory test reports using state-of-the-art OCR algorithms. The IE module is then used to extract meaningful information from the OCR results to form digitalized tables of the test reports. The IE module consists of five sub-modules, which are time detection, headline position, line normalization, Named Entity Recognition (NER) with a Conditional Random Fields (CRF)-based method, and step detection for multi-column. Finally, we evaluated the performance of the proposed pipeline on 153 laboratory test reports collected from Peking University First Hospital (PKU1). Results: In the OCR module, we evaluate the accuracy of text detection and recognition results at three different levels and achieved an averaged accuracy of 0.93. In the IE module, we extracted four laboratory test entities, including test item name, test result, test unit, and reference value range. The overall F1 score is 0.86 on the 153 laboratory test reports collected from PKU1. With a single CPU, the average inference time of each report is only 0.78 s. Conclusion: In this study, we developed a practical lightweight pipeline to digitalize and extract information from paper-based laboratory test reports in diverse types and with different layouts that can be adopted in real clinical environments with the lowest possible computing resources requirements. The high evaluation performance on the real-world hospital dataset validated the feasibility of the proposed pipeline. [ABSTRACT FROM AUTHOR]

Background: In order to detect threats to public health and to be well-prepared for endemic and pandemic illness outbreaks, countries usually rely on event-based surveillance (EBS) and indicator-based surveillance systems. Event-based surveillance systems are key components of early warning systems and focus on fast capturing of data to detect threat signals through channels other than traditional surveillance. In this study, we develop Natural Language Processing tools that can be used within EBS systems. In particular, we focus on information extraction techniques that enable digital surveillance to monitor Internet data and social media. Results: We created an annotated Spanish corpus from ProMED-mail health reports regarding disease outbreaks in Latin America. The corpus has been used to train algorithms for two information extraction tasks: named entity recognition and relation extraction. The algorithms, based on deep learning and rules, have been applied to recognize diseases, hosts, and geographical locations where a disease is occurring, among other entities and relations. In addition, an in-depth analysis of micro-average F1 metrics shows the suitability of our approaches for both tasks. Conclusions: The annotated corpus and algorithms presented could leverage the development of automated tools for extracting information from news and health reports written in Spanish. Moreover, this framework could be useful within EBS systems to support the early detection of Latin American disease outbreaks. [ABSTRACT FROM AUTHOR]

Background: Unstructured text in medical records, such as Electronic Health Records, contain an enormous amount of valuable information for research; however, it is difficult to extract and structure important information because of frequent typographical errors. Therefore, improving the quality of data with errors for text analysis is an essential task. To date, few prior studies have been conducted addressing this. Here, we propose a new methodology for extracting important information from unstructured medical texts by overcoming the typographical problem in surgical pathology records related to lung cancer. Methods: We propose a typo correction model that considers context, based on the Masked Language Model, to solve the problem of typographical errors in real-world medical data. In addition, a word dictionary was used for the typo correction model based on PubMed abstracts. After refining the data through typo correction, fine tuning was performed on pre-trained BERT model. Next, deep learning-based Named Entity Recognition (NER) was performed. By solving the quality problem of medical data, we sought to improve the accuracy of information extraction in unstructured text data. Results: We compared the performance of the proposed typo correction model based on contextual information with an existing SymSpell model. We confirmed that our proposed model outperformed the existing model in a typographical correction task. The F1-score of the model improved by approximately 5% and 9% when compared with the model without contextual information in the NCBI-disease and surgical pathology record datasets, respectively. In addition, the F1-score of NER after typo correction increased by 2% in the NCBI-disease dataset. There was a significant performance difference of approximately 25% between the before and after typo correction in the Surgical pathology record dataset. This confirmed that typos influenced the information extraction of the unstructured text. Conclusion: We verified that typographical errors in unstructured text negatively affect the performance of natural language processing tasks. The proposed method of a typo correction model outperformed the existing SymSpell model. This study shows that the proposed model is robust and can be applied in real-world environments by focusing on the typos that cause difficulties in analyzing unstructured medical text. [ABSTRACT FROM AUTHOR]

Background: Extracting metastatic information from previous radiologic-text reports is important, however, laborious annotations have limited the usability of these texts. We developed a deep-learning model for extracting primary lung cancer sites and metastatic lymph nodes and distant metastasis information from PET-CT reports for determining lung cancer stages.Methods: PET-CT reports, fully written in English, were acquired from two cohorts of patients with lung cancer who were diagnosed at a tertiary hospital between January 2004 and March 2020. One cohort of 20,466 PET-CT reports was used for training and the validation set, and the other cohort of 4190 PET-CT reports was used for an additional-test set. A pre-processing model (Lung Cancer Spell Checker) was applied to correct the typographical errors, and pseudo-labelling was used for training the model. The deep-learning model was constructed using the Convolutional-Recurrent Neural Network. The performance metrics for the prediction model were accuracy, precision, sensitivity, micro-AUROC, and AUPRC.Results: For the extraction of primary lung cancer location, the model showed a micro-AUROC of 0.913 and 0.946 in the validation set and the additional-test set, respectively. For metastatic lymph nodes, the model showed a sensitivity of 0.827 and a specificity of 0.960. In predicting distant metastasis, the model showed a micro-AUROC of 0.944 and 0.950 in the validation and the additional-test set, respectively.Conclusion: Our deep-learning method could be used for extracting lung cancer stage information from PET-CT reports and may facilitate lung cancer studies by alleviating laborious annotation by clinicians. [ABSTRACT FROM AUTHOR]

Background: Developing predictive models for precision psychiatry is challenging because of unavailability of the necessary data: extracting useful information from existing electronic health record (EHR) data is not straightforward, and available clinical trial datasets are often not representative for heterogeneous patient groups. The aim of this study was constructing a natural language processing (NLP) pipeline that extracts variables for building predictive models from EHRs. We specifically tailor the pipeline for extracting information on outcomes of psychiatry treatment trajectories, applicable throughout the entire spectrum of mental health disorders ("transdiagnostic"). Methods: A qualitative study into beliefs of clinical staff on measuring treatment outcomes was conducted to construct a candidate list of variables to extract from the EHR. To investigate if the proposed variables are suitable for measuring treatment effects, resulting themes were compared to transdiagnostic outcome measures currently used in psychiatry research and compared to the HDRS (as a gold standard) through systematic review, resulting in an ideal set of variables. To extract these from EHR data, a semi-rule based NLP pipeline was constructed and tailored to the candidate variables using Prodigy. Classification accuracy and F1-scores were calculated and pipeline output was compared to HDRS scores using clinical notes from patients admitted in 2019 and 2020. Results: Analysis of 34 questionnaires answered by clinical staff resulted in four themes defining treatment outcomes: symptom reduction, general well-being, social functioning and personalization. Systematic review revealed 242 different transdiagnostic outcome measures, with the 36-item Short-Form Survey for quality of life (SF36) being used most consistently, showing substantial overlap with the themes from the qualitative study. Comparing SF36 to HDRS scores in 26 studies revealed moderate to good correlations (0.62—0.79) and good positive predictive values (0.75—0.88). The NLP pipeline developed with notes from 22,170 patients reached an accuracy of 95 to 99 percent (F1 scores: 0.38 – 0.86) on detecting these themes, evaluated on data from 361 patients. Conclusions: The NLP pipeline developed in this study extracts outcome measures from the EHR that cater specifically to the needs of clinical staff and align with outcome measures used to detect treatment effects in clinical trials. [ABSTRACT FROM AUTHOR]

Background: Manually extracted data points from health records are collated on an institutional, provincial, and national level to facilitate clinical research. However, the labour-intensive clinical chart review process puts an increasing burden on healthcare system budgets. Therefore, an automated information extraction system is needed to ensure the timeliness and scalability of research data.Methods: We used a dataset of 100 synoptic operative and 100 pathology reports, evenly split into 50 reports in training and test sets for each report type. The training set guided our development of a Natural Language Processing (NLP) extraction pipeline system, which accepts scanned images of operative and pathology reports. The system uses a combination of rule-based and transfer learning methods to extract numeric encodings from text. We also developed visualization tools to compare the manual and automated extractions. The code for this paper was made available on GitHub.Results: A test set of 50 operative and 50 pathology reports were used to evaluate the extraction accuracies of the NLP pipeline. Gold standard, defined as manual extraction by expert reviewers, yielded accuracies of 90.5% for operative reports and 96.0% for pathology reports, while the NLP system achieved overall 91.9% (operative) and 95.4% (pathology) accuracy. The pipeline successfully extracted outcomes data pertinent to breast cancer tumor characteristics (e.g. presence of invasive carcinoma, size, histologic type), prognostic factors (e.g. number of lymph nodes with micro-metastases and macro-metastases, pathologic stage), and treatment-related variables (e.g. margins, neo-adjuvant treatment, surgical indication) with high accuracy. Out of the 48 variables across operative and pathology codebooks, NLP yielded 43 variables with F-scores of at least 0.90; in comparison, a trained human annotator yielded 44 variables with F-scores of at least 0.90.Conclusions: The NLP system achieves near-human-level accuracy in both operative and pathology reports using a minimal curated dataset. This system uniquely provides a robust solution for transparent, adaptable, and scalable automation of data extraction from patient health records. It may serve to advance breast cancer clinical research by facilitating collection of vast amounts of valuable health data at a population level. [ABSTRACT FROM AUTHOR]

Background: Analyzing the unstructured textual data contained in electronic health records (EHRs) has always been a challenging task. Word embedding methods have become an essential foundation for neural network-based approaches in natural language processing (NLP), to learn dense and low-dimensional word representations from large unlabeled corpora that capture the implicit semantics of words. Models like Word2Vec, GloVe or FastText have been broadly applied and reviewed in the bioinformatics and healthcare fields, most often to embed clinical notes or activity and diagnostic codes. Visualization of the learned embeddings has been used in a subset of these works, whether for exploratory or evaluation purposes. However, visualization practices tend to be heterogeneous, and lack overall guidelines.Objective: This scoping review aims to describe the methods and strategies used to visualize medical concepts represented using word embedding methods. We aim to understand the objectives of the visualizations and their limits.Methods: This scoping review summarizes different methods used to visualize word embeddings in healthcare. We followed the methodology proposed by Arksey and O'Malley (Int J Soc Res Methodol 8:19-32, 2005) and by Levac et al. (Implement Sci 5:69, 2010) to better analyze the data and provide a synthesis of the literature on the matter.Results: We first obtained 471 unique articles from a search conducted in PubMed, MedRxiv and arXiv databases. 30 of these were effectively reviewed, based on our inclusion and exclusion criteria. 23 articles were excluded in the full review stage, resulting in the analysis of 7 papers that fully correspond to our inclusion criteria. Included papers pursued a variety of objectives and used distinct methods to evaluate their embeddings and to visualize them. Visualization also served heterogeneous purposes, being alternatively used as a way to explore the embeddings, to evaluate them or to merely illustrate properties otherwise formally assessed.Conclusions: Visualization helps to explore embedding results (further dimensionality reduction, synthetic representation). However, it does not exhaust the information conveyed by the embeddings nor constitute a self-sustaining evaluation method of their pertinence. [ABSTRACT FROM AUTHOR]

Background: A lot of medical mentions can be extracted from a huge amount of medical texts. In order to make use of these medical mentions, a prerequisite step is to link those medical mentions to a medical domain knowledge base (KB). This linkage of mention to a well-defined, unambiguous KB is a necessary part of the downstream application such as disease diagnosis and prescription of drugs. Such demand becomes more urgent in colloquial and informal situations like online medical consultation, where the medical language is more casual and vaguer. In this article, we propose an unsupervised method to link the Chinese medical symptom mentions to the ICD10 classification in a colloquial background.Methods: We propose an unsupervised entity linking model using multi-instance learning (MIL). Our approach builds on a basic unsupervised entity linking method (named BEL), which is an embedding similarity-based EL model in this paper, and uses MIL training paradigm to boost the performance of BEL. First, we construct a dataset from an unlabeled large-scale Chinese medical consultation corpus with the help of BEL. Subsequently, we use a variety of encoders to obtain the representations of mention-context and the ICD10 entities. Then the representations are fed into a ranking network to score candidate entities.Results: We evaluate the proposed model on the test dataset annotated by professional doctors. The evaluation results show that our method achieves 60.34% accuracy, exceeding the fundamental BEL by 1.72%.Conclusions: We propose an unsupervised entity linking method to the entity linking in the medical domain, using MIL training manner. We annotate a test set for evaluation. The experimental results show that our model behaves better than the fundamental model BEL, and provides an insight for future research. [ABSTRACT FROM AUTHOR]

Background: Drug repurposing is to find new indications of approved drugs, which is essential for investigating new uses for approved or investigational drug efficiency. The active gene annotation corpus (named AGAC) is annotated by human experts, which was developed to support knowledge discovery for drug repurposing. The AGAC track of the BioNLP Open Shared Tasks using this corpus is organized by EMNLP-BioNLP 2019, where the "Selective annotation" attribution makes AGAC track more challenging than other traditional sequence labeling tasks. In this work, we show our methods for trigger word detection (Task 1) and its thematic role identification (Task 2) in the AGAC track. As a step forward to drug repurposing research, our work can also be applied to large-scale automatic extraction of medical text knowledge.Methods: To meet the challenges of the two tasks, we consider Task 1 as the medical name entity recognition (NER), which cultivates molecular phenomena related to gene mutation. And we regard Task 2 as a relation extraction task, which captures the thematic roles between entities. In this work, we exploit pre-trained biomedical language representation models (e.g., BioBERT) in the information extraction pipeline for mutation-disease knowledge collection from PubMed. Moreover, we design the fine-tuning framework by using a multi-task learning technique and extra features. We further investigate different approaches to consolidate and transfer the knowledge from varying sources and illustrate the performance of our model on the AGAC corpus. Our approach is based on fine-tuned BERT, BioBERT, NCBI BERT, and ClinicalBERT using multi-task learning. Further experiments show the effectiveness of knowledge transformation and the ensemble integration of models of two tasks. We conduct a performance comparison of various algorithms. We also do an ablation study on the development set of Task 1 to examine the effectiveness of each component of our method.Results: Compared with competitor methods, our model obtained the highest Precision (0.63), Recall (0.56), and F-score value (0.60) in Task 1, which ranks first place. It outperformed the baseline method provided by the organizers by 0.10 in F-score. The model shared the same encoding layers for the named entity recognition and relation extraction parts. And we obtained a second high F-score (0.25) in Task 2 with a simple but effective framework.Conclusions: Experimental results on the benchmark annotation of genes with active mutation-centric function changes corpus show that integrating pre-trained biomedical language representation models (i.e., BERT, NCBI BERT, ClinicalBERT, BioBERT) into a pipe of information extraction methods with multi-task learning can improve the ability to collect mutation-disease knowledge from PubMed. [ABSTRACT FROM AUTHOR]

Background: The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to establish natural history. Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy that commonly initiates in the first year of life with febrile seizures (FS). Age at diagnosis is often delayed after 2 years, as it is difficult to differentiate DS at onset from FS. We aimed to explore if some clinical terms (concepts) are significantly more used in the electronic narrative medical reports of individuals with DS before the age of 2 years compared to those of individuals with FS. These concepts would allow an earlier detection of patients with DS resulting in an earlier orientation toward expert centers that can provide early diagnosis and care.Methods: Data were collected from the Necker Enfants Malades Hospital using a document-based data warehouse, Dr Warehouse, which employs Natural Language Processing, a computer technology consisting in processing written information. Using Unified Medical Language System Meta-thesaurus, phenotype concepts can be recognized in medical reports. We selected individuals with DS (DS Cohort) and individuals with FS (FS Cohort) with confirmed diagnosis after the age of 4 years. A phenome-wide analysis was performed evaluating the statistical associations between the phenotypes of DS and FS, based on concepts found in the reports produced before 2 years and using a series of logistic regressions.Results: We found significative higher representation of concepts related to seizures' phenotypes distinguishing DS from FS in the first phases, namely the major recurrence of complex febrile convulsions (long-lasting and/or with focal signs) and other seizure-types. Some typical early onset non-seizure concepts also emerged, in relation to neurodevelopment and gait disorders.Conclusions: Narrative medical reports of individuals younger than 2 years with FS contain specific concepts linked to DS diagnosis, which can be automatically detected by software exploiting NLP. This approach could represent an innovative and sustainable methodology to decrease time of diagnosis of DS and could be transposed to other rare diseases. [ABSTRACT FROM AUTHOR]

Background: The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to establish natural history. Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy that commonly initiates in the first year of life with febrile seizures (FS). Age at diagnosis is often delayed after 2 years, as it is difficult to differentiate DS at onset from FS. We aimed to explore if some clinical terms (concepts) are significantly more used in the electronic narrative medical reports of individuals with DS before the age of 2 years compared to those of individuals with FS. These concepts would allow an earlier detection of patients with DS resulting in an earlier orientation toward expert centers that can provide early diagnosis and care. Methods: Data were collected from the Necker Enfants Malades Hospital using a document-based data warehouse, Dr Warehouse, which employs Natural Language Processing, a computer technology consisting in processing written information. Using Unified Medical Language System Meta-thesaurus, phenotype concepts can be recognized in medical reports. We selected individuals with DS (DS Cohort) and individuals with FS (FS Cohort) with confirmed diagnosis after the age of 4 years. A phenome-wide analysis was performed evaluating the statistical associations between the phenotypes of DS and FS, based on concepts found in the reports produced before 2 years and using a series of logistic regressions. Results: We found significative higher representation of concepts related to seizures' phenotypes distinguishing DS from FS in the first phases, namely the major recurrence of complex febrile convulsions (long-lasting and/or with focal signs) and other seizure-types. Some typical early onset non-seizure concepts also emerged, in relation to neurodevelopment and gait disorders. Conclusions: Narrative medical reports of individuals younger than 2 years with FS contain specific concepts linked to DS diagnosis, which can be automatically detected by software exploiting NLP. This approach could represent an innovative and sustainable methodology to decrease time of diagnosis of DS and could be transposed to other rare diseases. [ABSTRACT FROM AUTHOR]

Background: Controlled vocabularies are fundamental resources for information extraction from clinical texts using natural language processing (NLP). Standard language resources available in the healthcare domain such as the UMLS metathesaurus or SNOMED CT are widely used for this purpose, but with limitations such as lexical ambiguity of clinical terms. However, most of them are unambiguous within text limited to a given clinical specialty. This is one rationale besides others to classify clinical text by the clinical specialty to which they belong.Results: This paper addresses this limitation by proposing and applying a method that automatically extracts Spanish medical terms classified and weighted per sub-domain, using Spanish MEDLINE titles and abstracts as input. The hypothesis is biomedical NLP tasks benefit from collections of domain terms that are specific to clinical subdomains. We use PubMed queries that generate sub-domain specific corpora from Spanish titles and abstracts, from which token n-grams are collected and metrics of relevance, discriminatory power, and broadness per sub-domain are computed. The generated term set, called Spanish core vocabulary about clinical specialties (SCOVACLIS), was made available to the scientific community and used in a text classification problem obtaining improvements of 6 percentage points in the F-measure compared to the baseline using Multilayer Perceptron, thus demonstrating the hypothesis that a specialized term set improves NLP tasks.Conclusion: The creation and validation of SCOVACLIS support the hypothesis that specific term sets reduce the level of ambiguity when compared to a specialty-independent and broad-scope vocabulary. [ABSTRACT FROM AUTHOR]

Background: High quality serious illness communication requires good understanding of patients' values and beliefs for their treatment at end of life. Natural Language Processing (NLP) offers a reliable and scalable method for measuring and analyzing value- and belief-related features of conversations in the natural clinical setting. We use a validated NLP corpus and a series of statistical analyses to capture and explain conversation features that characterize the complex domain of moral values and beliefs. The objective of this study was to examine the frequency, distribution and clustering of morality lexicon expressed by patients during palliative care consultation using the Moral Foundations NLP Dictionary. Methods: We used text data from 231 audio-recorded and transcribed inpatient PC consultations and data from baseline and follow-up patient questionnaires at two large academic medical centers in the United States. With these data, we identified different moral expressions in patients using text mining techniques. We used latent class analysis to explore if there were qualitatively different underlying patterns in the PC patient population. We used Poisson regressions to analyze if individual patient characteristics, EOL preferences, religion and spiritual beliefs were associated with use of moral terminology. Results: We found two latent classes: a class in which patients did not use many expressions of morality in their PC consultations and one in which patients did. Age, race (white), education, spiritual needs, and whether a patient was affiliated with Christianity or another religion were all associated with membership of the first class. Gender, financial security and preference for longevity-focused over comfort focused treatment near EOL did not affect class membership. Conclusions: This study is among the first to use text data from a real-world situation to extract information regarding individual foundations of morality. It is the first to test empirically if individual moral expressions are associated with individual characteristics, attitudes and emotions. [ABSTRACT FROM AUTHOR]

Background: Next-generation sequencing provides comprehensive information about individuals' genetic makeup and is commonplace in oncology clinical practice. However, the utility of genetic information in the clinical decision-making process has not been examined extensively from a real-world, data-driven perspective. Through mining real-world data (RWD) from clinical notes, we could extract patients' genetic information and further associate treatment decisions with genetic information.Methods: We proposed a real-world evidence (RWE) study framework that incorporates context-based natural language processing (NLP) methods and data quality examination before final association analysis. The framework was demonstrated in a Foundation-tested women cancer cohort (N = 196). Upon retrieval of patients' genetic information using NLP system, we assessed the completeness of genetic data captured in unstructured clinical notes according to a genetic data-model. We examined the distribution of different topics regarding BRCA1/2 throughout patients' treatment process, and then analyzed the association between BRCA1/2 mutation status and the discussion/prescription of targeted therapy.Results: We identified seven topics in the clinical context of genetic mentions including: Information, Evaluation, Insurance, Order, Negative, Positive, and Variants of unknown significance. Our rule-based system achieved a precision of 0.87, recall of 0.93 and F-measure of 0.91. Our machine learning system achieved a precision of 0.901, recall of 0.899 and F-measure of 0.9 for four-topic classification and a precision of 0.833, recall of 0.823 and F-measure of 0.82 for seven-topic classification. We found in result-containing sentences, the capture of BRCA1/2 mutation information was 75%, but detailed variant information (e.g. variant types) is largely missing. Using cleaned RWD, significant associations were found between BRCA1/2 positive mutation and targeted therapies.Conclusions: In conclusion, we demonstrated a framework to generate RWE using RWD from different clinical sources. Rule-based NLP system achieved the best performance for resolving contextual variability when extracting RWD from unstructured clinical notes. Data quality issues such as incompleteness and discrepancies exist thus manual data cleaning is needed before further analysis can be performed. Finally, we were able to use cleaned RWD to evaluate the real-world utility of genetic information to initiate a prescription of targeted therapy. [ABSTRACT FROM AUTHOR]

Background: Medication errors have been identified as the most common preventable cause of adverse events. The lack of granularity in medication error terminology has led pharmacovigilance experts to rely on information in individual case safety reports' (ICSRs) codes and narratives for signal detection, which is both time consuming and labour intensive. Thus, there is a need for complementary methods for the detection of medication errors from ICSRs. The aim of this study is to evaluate the utility of two natural language processing text mining methods as complementary tools to the traditional approach followed by pharmacovigilance experts for medication error signal detection.Methods: The safety surveillance advisor (SSA) method, I2E text mining and University of Copenhagen Center for Protein Research (CPR) text mining, were evaluated for their ability to extract cases containing a type of medication error where patients extracted insulin from a prefilled pen or cartridge by a syringe. A total of 154,209 ICSRs were retrieved from Novo Nordisk's safety database from January 1987 to February 2018. Each method was evaluated by recall (sensitivity) and precision (positive predictive value).Results: We manually annotated 2533 ICSRs to investigate whether these contained the sought medication error. All these ICSRs were then analysed using the three methods. The recall was 90.4, 88.1 and 78.5% for the CPR text mining, the SSA method and the I2E text mining, respectively. Precision was low for all three methods ranging from 3.4% for the SSA method to 1.9 and 1.6% for the CPR and I2E text mining methods, respectively.Conclusions: Text mining methods can, with advantage, be used for the detection of complex signals relying on information found in unstructured text (e.g., ICSR narratives) as standardised and both less labour-intensive and time-consuming methods compared to traditional pharmacovigilance methods. The employment of text mining in pharmacovigilance need not be limited to the surveillance of potential medication errors but can be used for the ongoing regulatory requests, e.g., obligations in risk management plans and may thus be utilised broadly for signal detection and ongoing surveillance activities. [ABSTRACT FROM AUTHOR]

Background: Most structured clinical data, such as diagnosis codes, are not sufficient to obtain precise phenotypes and assess disease burden. Text mining of clinical notes could provide a basis for detailed profiles of phenotypic traits. The objective of the current study was to determine whether drug dose, regardless of polypharmacy, is associated with the length of clinical notes, and to determine the frequency of adverse events per word in clinical notes.Methods: In this observational study, we utilized restricted-access data from an electronic patient record system. Using three methods (defined daily dose, olanzapine equivalents, and chlorpromazine equivalents) we calculated antipsychotic dose equivalents and compared these with the number of words recorded per treatment day. For each normalization method, the frequencies of adverse events per word in manually curated samples were compared to dose intervals.Results: The length of clinical notes per treatment day was positively associated with the prescribed dose for all normalization methods. The number of adverse events per word was stable over the analyzed dose spectrum.Conclusions: Assuming that drug dose increases with the severity of disease, the length of clinical notes can serve as a proxy for disease severity. Due to the near-linear relationship, correction of daily word count is unnecessary when text mining for potential adverse drug reactions. [ABSTRACT FROM AUTHOR]

Background: Duration of untreated psychosis (DUP) is an important clinical construct in the field of mental health, as longer DUP can be associated with worse intervention outcomes. DUP estimation requires knowledge about when psychosis symptoms first started (symptom onset), and when psychosis treatment was initiated. Electronic health records (EHRs) represent a useful resource for retrospective clinical studies on DUP, but the core information underlying this construct is most likely to lie in free text, meaning it is not readily available for clinical research. Natural Language Processing (NLP) is a means to addressing this problem by automatically extracting relevant information in a structured form. As a first step, it is important to identify appropriate documents, i.e., those that are likely to include the information of interest. Next, temporal information extraction methods are needed to identify time references for early psychosis symptoms. This NLP challenge requires solving three different tasks: time expression extraction, symptom extraction, and temporal "linking". In this study, we focus on the first step, using two relevant EHR datasets. Results: We applied a rule-based NLP system for time expression extraction that we had previously adapted to a corpus of mental health EHRs from patients with a diagnosis of schizophrenia (first referrals). We extended this work by applying this NLP system to a larger set of documents and patients, to identify additional texts that would be relevant for our long-term goal, and developed a new corpus from a subset of these new texts (early intervention services). Furthermore, we added normalized value annotations ("2011–05") to the annotated time expressions ("May 2011") in both corpora. The finalized corpora were used for further NLP development and evaluation, with promising results (normalization accuracy 71–86%). To highlight the specificities of our annotation task, we also applied the final adapted NLP system to a different temporally annotated clinical corpus. Conclusions: Developing domain-specific methods is crucial to address complex NLP tasks such as symptom onset extraction and retrospective calculation of duration of a preclinical syndrome. To the best of our knowledge, this is the first clinical text resource annotated for temporal entities in the mental health domain. [ABSTRACT FROM AUTHOR]

Background: There are often multiple lesions in breast magnetic resonance imaging (MRI) reports and radiologists usually focus on describing the index lesion that is most crucial to clinicians in determining the management and prognosis of patients. Natural language processing (NLP) has been used for information extraction from mammography reports. However, few studies have investigated NLP in breast MRI data based on free-form text. The objective of the current study was to assess the validity of our NLP program to accurately extract index lesions and their corresponding imaging features from free-form text of breast MRI reports.Methods: This cross-sectional study examined 1633 free-form text reports of breast MRIs from 2014 to 2017. First, the NLP system was used to extract 9 features from all the lesions in the reports according to the Breast Imaging Reporting and Data System (BI-RADS) descriptors. Second, the index lesion was defined as the lesion with the largest number of imaging features. Third, we extracted the values of each imaging feature and the BI-RADS category from each index lesion. To evaluate the accuracy of our system, 478 reports were manually reviewed by two individuals. The time taken to extract data by NLP was compared with that by reviewers.Results: The NLP system extracted 889 lesions from 478 reports. The mean number of imaging features per lesion was 6.5 ± 2.1 (range: 3-9; 95% CI: 6.362-6.638). The mean number of imaging features per index lesion was 8.0 ± 1.1 (range: 5-9; 95% CI: 7.901-8.099). The NLP system demonstrated a recall of 100.0% and a precision of 99.6% for correct identification of the index lesion. The recall and precision of NLP to correctly extract the value of imaging features from the index lesions were 91.0 and 92.6%, respectively. The recall and precision for the correct identification of the BI-RADS categories were 96.6 and 94.8%, respectively. NLP generated the total results in less than 1 s, whereas the manual reviewers averaged 4.47 min and 4.56 min per report.Conclusions: Our NLP method successfully extracted the index lesion and its corresponding information from free-form text. [ABSTRACT FROM AUTHOR]

Background: Family history (FH) information, including family members, side of family of family members (i.e., maternal or paternal), living status of family members, observations (diseases) of family members, etc., is very important in the decision-making process of disorder diagnosis and treatment. However FH information cannot be used directly by computers as it is always embedded in unstructured text in electronic health records (EHRs). In order to extract FH information form clinical text, there is a need of natural language processing (NLP). In the BioCreative/OHNLP2018 challenge, there is a task regarding FH extraction (i.e., task1), including two subtasks: (1) entity identification, identifying family members and their observations (diseases) mentioned in clinical text; (2) family history extraction, extracting side of family of family members, living status of family members, and observations of family members. For this task, we propose a system based on deep joint learning methods to extract FH information. Our system achieves the highest F1- scores of 0.8901 on subtask1 and 0.6359 on subtask2, respectively. [ABSTRACT FROM AUTHOR]

Background: Electronic medical records (EMR) contain numerical data important for clinical outcomes research, such as vital signs and cardiac ejection fractions (EF), which tend to be embedded in narrative clinical notes. In current practice, this data is often manually extracted for use in research studies. However, due to the large volume of notes in datasets, manually extracting numerical data often becomes infeasible. The objective of this study is to develop and validate a natural language processing (NLP) tool that can efficiently extract numerical clinical data from narrative notes.Results: To validate the accuracy of the tool EXTraction of EMR Numerical Data (EXTEND), we developed a reference standard by manually extracting vital signs from 285 notes, EF values from 300 notes, glycated hemoglobin (HbA1C), and serum creatinine from 890 notes. For each parameter of interest, we calculated the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and F1 score of EXTEND using two metrics. (1) completion of data extraction, and (2) accuracy of data extraction compared to the actual values in the note verified by chart review. At the note level, extraction by EXTEND was considered correct only if it accurately detected and extracted all values of interest in a note. Using manually-annotated labels as the gold standard, the note-level accuracy of EXTEND in capturing the numerical vital sign values, EF, HbA1C and creatinine ranged from 0.88 to 0.95 for sensitivity, 0.95 to 1.0 for specificity, 0.95 to 1.0 for PPV, 0.89 to 0.99 for NPV, and 0.92 to 0.96 in F1 scores. Compared to the actual value level, the sensitivity, PPV, and F1 score of EXTEND ranged from 0.91 to 0.95, 0.95 to 1.0 and 0.95 to 0.96.Conclusions: EXTEND is an efficient, flexible tool that uses knowledge-based rules to extract clinical numerical parameters with high accuracy. By increasing dictionary terms and developing new rules, the usage of EXTEND can easily be expanded to extract additional numerical data important in clinical outcomes research. [ABSTRACT FROM AUTHOR]

Background: Given the importance of relation or event extraction from biomedical research publications to support knowledge capture and synthesis, and the strong dependency of approaches to this information extraction task on syntactic information, it is valuable to understand which approaches to syntactic processing of biomedical text have the highest performance. Results: We perform an empirical study comparing state-of-the-art traditional feature-based and neural network-based models for two core natural language processing tasks of part-of-speech (POS) tagging and dependency parsing on two benchmark biomedical corpora, GENIA and CRAFT. To the best of our knowledge, there is no recent work making such comparisons in the biomedical context; specifically no detailed analysis of neural models on this data is available. Experimental results show that in general, the neural models outperform the feature-based models on two benchmark biomedical corpora GENIA and CRAFT. We also perform a task-oriented evaluation to investigate the influences of these models in a downstream application on biomedical event extraction, and show that better intrinsic parsing performance does not always imply better extrinsic event extraction performance. Conclusion: We have presented a detailed empirical study comparing traditional feature-based and neural network-based models for POS tagging and dependency parsing in the biomedical context, and also investigated the influence of parser selection for a biomedical event extraction downstream task. Availability of data and materials: We make the retrained models available at https://github.com/datquocnguyen/BioPosDep. [ABSTRACT FROM AUTHOR]

Background: Biomedical literature is expanding rapidly, and tools that help locate information of interest are needed. To this end, a multitude of different approaches for classifying sentences in biomedical publications according to their coarse semantic and rhetoric categories (e.g., Background, Methods, Results, Conclusions) have been devised, with recent state-of-the-art results reported for a complex deep learning model. Recent evidence showed that shallow and wide neural models such as fastText can provide results that are competitive or superior to complex deep learning models while requiring drastically lower training times and having better scalability. We analyze the efficacy of the fastText model in the classification of biomedical sentences in the PubMed 200k RCT benchmark, and introduce a simple pre-processing step that enables the application of fastText on sentence sequences. Furthermore, we explore the utility of two unsupervised pre-training approaches in scenarios where labeled training data are limited. Results: Our fastText-based methodology yields a state-of-the-art F1 score of.917 on the PubMed 200k benchmark when sentence ordering is taken into account, with a training time of only 73 s on standard hardware. Applying fastText on single sentences, without taking sentence ordering into account, yielded an F1 score of.852 (training time 13 s). Unsupervised pre-training of N-gram vectors greatly improved the results for small training set sizes, with an increase of F1 score of.21 to.74 when trained on only 1000 randomly picked sentences without taking sentence ordering into account. Conclusions: Because of it's ease of use and performance, fastText should be among the first choices of tools when tackling biomedical text classification problems with large corpora. Unsupervised pre-training of N-gram vectors on domain-specific corpora also makes it possible to apply fastText when labeled training data are limited. [ABSTRACT FROM AUTHOR]

Background: Biomedical semantic indexing is important for information retrieval and many other research fields in bioinformatics. It annotates biomedical citations with Medical Subject Headings. In face of unbalanced category distribution in the training data, sampling methods are difficult to apply for semantic indexing task. Results: In this paper, we present a novel deep serial multi-task learning model. The primary task treats the biomedical semantic indexing as a multi-label text classification issue that considers the relations of the labels. The auxiliary task is a regression task that predicts the MeSH number of the citation and provides hints for the network to make it converge faster. The experimental results on the BioASQ-Task5A open dataset show that our model outperforms the state-of-the-art solution "MTI", proposed by the US National Library of Medicine. Further, it not only achieves the highest precision among all the solutions in BioASQ-Task5A but also has faster convergence speed compared with some naive deep learning methods. Conclusions: Rather than parallel in an ordinary multi-task structure, the tasks in our model are serial and tightly coupled. It can achieve satisfied performance without any handcrafted feature. [ABSTRACT FROM AUTHOR]

Background: Behaviour change is key to addressing both the challenges facing human health and wellbeing and to promoting the uptake of research findings in health policy and practice. We need to make better use of the vast amount of accumulating evidence from behaviour change intervention (BCI) evaluations and promote the uptake of that evidence into a wide range of contexts. The scale and complexity of the task of synthesising and interpreting this evidence, and increasing evidence timeliness and accessibility, will require increased computer support. The Human Behaviour-Change Project (HBCP) will use Artificial Intelligence and Machine Learning to (i) develop and evaluate a 'Knowledge System' that automatically extracts, synthesises and interprets findings from BCI evaluation reports to generate new insights about behaviour change and improve prediction of intervention effectiveness and (ii) allow users, such as practitioners, policy makers and researchers, to easily and efficiently query the system to get answers to variants of the question 'What works, compared with what, how well, with what exposure, with what behaviours (for how long), for whom, in what settings and why?'.Methods: The HBCP will: a) develop an ontology of BCI evaluations and their reports linking effect sizes for given target behaviours with intervention content and delivery and mechanisms of action, as moderated by exposure, populations and settings; b) develop and train an automated feature extraction system to annotate BCI evaluation reports using this ontology; c) develop and train machine learning and reasoning algorithms to use the annotated BCI evaluation reports to predict effect sizes for particular combinations of behaviours, interventions, populations and settings; d) build user and machine interfaces for interrogating and updating the knowledge base; and e) evaluate all the above in terms of performance and utility.Discussion: The HBCP aims to revolutionise our ability to synthesise, interpret and deliver evidence on behaviour change interventions that is up-to-date and tailored to user need and context. This will enhance the usefulness, and support the implementation of, that evidence. [ABSTRACT FROM AUTHOR]

Background: Identifying patients with certain clinical criteria based on manual chart review of doctors' notes is a daunting task given the massive amounts of text notes in the electronic health records (EHR). This task can be automated using text classifiers based on Natural Language Processing (NLP) techniques along with pattern recognition machine learning (ML) algorithms. The aim of this research is to evaluate the performance of traditional classifiers for identifying patients with Systemic Lupus Erythematosus (SLE) in comparison with a newer Bayesian word vector method.Methods: We obtained clinical notes for patients with SLE diagnosis along with controls from the Rheumatology Clinic (662 total patients). Sparse bag-of-words (BOWs) and Unified Medical Language System (UMLS) Concept Unique Identifiers (CUIs) matrices were produced using NLP pipelines. These matrices were subjected to several different NLP classifiers: neural networks, random forests, naïve Bayes, support vector machines, and Word2Vec inversion, a Bayesian inversion method. Performance was measured by calculating accuracy and area under the Receiver Operating Characteristic (ROC) curve (AUC) of a cross-validated (CV) set and a separate testing set.Results: We calculated the accuracy of the ICD-9 billing codes as a baseline to be 90.00% with an AUC of 0.900, the shallow neural network with CUIs to be 92.10% with an AUC of 0.970, the random forest with BOWs to be 95.25% with an AUC of 0.994, the random forest with CUIs to be 95.00% with an AUC of 0.979, and the Word2Vec inversion to be 90.03% with an AUC of 0.905.Conclusions: Our results suggest that a shallow neural network with CUIs and random forests with both CUIs and BOWs are the best classifiers for this lupus phenotyping task. The Word2Vec inversion method failed to significantly beat the ICD-9 code classification, but yielded promising results. This method does not require explicit features and is more adaptable to non-binary classification tasks. The Word2Vec inversion is hypothesized to become more powerful with access to more data. Therefore, currently, the shallow neural networks and random forests are the desirable classifiers. [ABSTRACT FROM AUTHOR]

Background: Cardiovascular disease (CVD) has become the leading cause of death in China, and most of the cases can be prevented by controlling risk factors. The goal of this study was to build a corpus of CVD risk factor annotations based on Chinese electronic medical records (CEMRs). This corpus is intended to be used to develop a risk factor information extraction system that, in turn, can be applied as a foundation for the further study of the progress of risk factors and CVD.Results: We designed a light annotation task to capture CVD risk factors with indicators, temporal attributes and assertions that were explicitly or implicitly displayed in the records. The task included: 1) preparing data; 2) creating guidelines for capturing annotations (these were created with the help of clinicians); 3) proposing an annotation method including building the guidelines draft, training the annotators and updating the guidelines, and corpus construction. Meanwhile, we proposed some creative annotation guidelines: (1) the under-threshold medical examination values were annotated for our purpose of studying the progress of risk factors and CVD; (2) possible and negative risk factors were concerned for the same reason, and we created assertions for annotations; (3) we added four temporal attributes to CVD risk factors in CEMRs for constructing long term variations. Then, a risk factor annotated corpus based on de-identified discharge summaries and progress notes from 600 patients was developed. Built with the help of clinicians, this corpus has an inter-annotator agreement (IAA) F1-measure of 0.968, indicating a high reliability.Conclusion: To the best of our knowledge, this is the first annotated corpus concerning CVD risk factors in CEMRs and the guidelines for capturing CVD risk factor annotations from CEMRs were proposed. The obtained document-level annotations can be applied in future studies to monitor risk factors and CVD over the long term. [ABSTRACT FROM AUTHOR]

Background: Knowledge engineering for ontological knowledgebases is resource and time intensive. To alleviate these issues, especially for novices, automated tools from the natural language domain can assist in the development process of ontologies. We focus towards the development of ontologies for the public health domain and use patient-centric sources from MedlinePlus related to HPV-causing cancers.Methods: This paper demonstrates the use of a lightweight open information extraction (OIE) tool to derive accurate knowledge triples that can lead to the seeding of an ontological knowledgebase. We developed a custom application, which interfaced with an information extraction software library, to help facilitate the tasks towards producing knowledge triples from textual sources.Results: The results of our efforts generated accurate extractions ranging from 80-89% precision. These triples can later be transformed to OWL/RDF representation for our planned ontological knowledgebase.Conclusions: OIE delivers an effective and accessible method towards the development ontologies. [ABSTRACT FROM AUTHOR]

Background: Plants are natural products that humans consume in various ways including food and medicine. They have a long empirical history of treating diseases with relatively few side effects. Based on these strengths, many studies have been performed to verify the effectiveness of plants in treating diseases. It is crucial to understand the chemicals contained in plants because these chemicals can regulate activities of proteins that are key factors in causing diseases. With the accumulation of a large volume of biomedical literature in various databases such as PubMed, it is possible to automatically extract relationships between plants and chemicals in a large-scale way if we apply a text mining approach. A cornerstone of achieving this task is a corpus of relationships between plants and chemicals. Results: In this study, we first constructed a corpus for plant and chemical entities and for the relationships between them. The corpus contains 267 plant entities, 475 chemical entities, and 1,007 plant--chemical relationships (550 and 457 positive and negative relationships, respectively), which are drawn from 377 sentences in 245 PubMed abstracts. Inter-annotator agreement scores for the corpus among three annotators were measured. The simple percent agreement scores for entities and trigger words for the relationships were 99.6 and 94.8 %, respectively, and the overall kappa score for the classification of positive and negative relationships was 79.8 %. We also developed a rule-based model to automatically extract such plant--chemical relationships. When we evaluated the rule-based model using the corpus and randomly selected biomedical articles, overall F-scores of 68.0 and 61.8 % were achieved, respectively. Conclusion: We expect that the corpus for plant--chemical relationships will be a useful resource for enhancing plant research. The corpus is available at http://combio.gist.ac.kr/plantchemicalcorpus. [ABSTRACT FROM AUTHOR]

Background: Numerous publicly available biomedical databases derive data by curating from literatures. The curated data can be useful as training examples for information extraction, but curated data usually lack the exact mentions and their locations in the text required for supervised machine learning. This paper describes a general approach to information extraction using curated data as training examples. The idea is to formulate the problem as cost-sensitive learning from noisy labels, where the cost is estimated by a committee of weak classifiers that consider both curated data and the text. Results: We test the idea on two information extraction tasks of Genome-Wide Association Studies (GWAS). The first task is to extract target phenotypes (diseases or traits) of a study and the second is to extract ethnicity backgrounds of study subjects for different stages (initial or replication). Experimental results show that our approach can achieve 87% of Precision-at-2 (P@2) for disease/trait extraction, and 0.83 of F1-Score for stage-ethnicity extraction, both outperforming their cost-insensitive baseline counterparts. Conclusions: The results show that curated biomedical databases can potentially be reused as training examples to train information extractors without expert annotation or refinement, opening an unprecedented opportunity of using "big data" in biomedical text mining. [ABSTRACT FROM AUTHOR]

Background: Interoperable phenotyping algorithms, needed to identify patient cohorts meeting eligibility criteria for observational studies or clinical trials, require medical data in a consistent structured, coded format. Data heterogeneity limits such algorithms' applicability. Existing approaches are often: not widely interoperable; or, have low sensitivity due to reliance on the lowest common denominator (ICD-9 diagnoses). In the Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS) we endeavor to use the widely-available Current Procedural Terminology (CPT) procedure codes with ICD-9. Unfortunately, CPT changes drastically year-to-year - codes are retired/replaced. Longitudinal analysis requires grouping retired and current codes. BioPortal provides a navigable CPT hierarchy, which we imported into the Informatics for Integrating Biology and the Bedside (i2b2) data warehouse and analytics platform. However, this hierarchy does not include retired codes.Methods: We compared BioPortal's 2014AA CPT hierarchy with Partners Healthcare's SCILHS datamart, comprising three-million patients' data over 15 years. 573 CPT codes were not present in 2014AA (6.5 million occurrences). No existing terminology provided hierarchical linkages for these missing codes, so we developed a method that automatically places missing codes in the most specific "grouper" category, using the numerical similarity of CPT codes. Two informaticians reviewed the results. We incorporated the final table into our i2b2 SCILHS/PCORnet ontology, deployed it at seven sites, and performed a gap analysis and an evaluation against several phenotyping algorithms.Results: The reviewers found the method placed the code correctly with 97 % precision when considering only miscategorizations ("correctness precision") and 52 % precision using a gold-standard of optimal placement ("optimality precision"). High correctness precision meant that codes were placed in a reasonable hierarchal position that a reviewer can quickly validate. Lower optimality precision meant that codes were not often placed in the optimal hierarchical subfolder. The seven sites encountered few occurrences of codes outside our ontology, 93 % of which comprised just four codes. Our hierarchical approach correctly grouped retired and non-retired codes in most cases and extended the temporal reach of several important phenotyping algorithms.Conclusions: We developed a simple, easily-validated, automated method to place retired CPT codes into the BioPortal CPT hierarchy. This complements existing hierarchical terminologies, which do not include retired codes. The approach's utility is confirmed by the high correctness precision and successful grouping of retired with non-retired codes. [ABSTRACT FROM AUTHOR]

Background: A plethora of publicly available biomedical resources do currently exist and are constantly increasing at a fast rate. In parallel, specialized repositories are been developed, indexing numerous clinical and biomedical tools. The main drawback of such repositories is the difficulty in locating appropriate resources for a clinical or biomedical decision task, especially for non-Information Technology expert users. In parallel, although NLP research in the clinical domain has been active since the 1960s, progress in the development of NLP applications has been slow and lags behind progress in the general NLP domain. The aim of the present study is to investigate the use of semantics for biomedical resources annotation with domain specific ontologies and exploit Natural Language Processing methods in empowering the non-Information Technology expert users to efficiently search for biomedical resources using natural language.Methods: A Natural Language Processing engine which can "translate" free text into targeted queries, automatically transforming a clinical research question into a request description that contains only terms of ontologies, has been implemented. The implementation is based on information extraction techniques for text in natural language, guided by integrated ontologies. Furthermore, knowledge from robust text mining methods has been incorporated to map descriptions into suitable domain ontologies in order to ensure that the biomedical resources descriptions are domain oriented and enhance the accuracy of services discovery. The framework is freely available as a web application at ( http://calchas.ics.forth.gr/ ).Results: For our experiments, a range of clinical questions were established based on descriptions of clinical trials from the ClinicalTrials.gov registry as well as recommendations from clinicians. Domain experts manually identified the available tools in a tools repository which are suitable for addressing the clinical questions at hand, either individually or as a set of tools forming a computational pipeline. The results were compared with those obtained from an automated discovery of candidate biomedical tools. For the evaluation of the results, precision and recall measurements were used. Our results indicate that the proposed framework has a high precision and low recall, implying that the system returns essentially more relevant results than irrelevant.Conclusions: There are adequate biomedical ontologies already available, sufficiency of existing NLP tools and quality of biomedical annotation systems for the implementation of a biomedical resources discovery framework, based on the semantic annotation of resources and the use on NLP techniques. The results of the present study demonstrate the clinical utility of the application of the proposed framework which aims to bridge the gap between clinical question in natural language and efficient dynamic biomedical resources discovery. [ABSTRACT FROM AUTHOR]

Background: In this study we implemented and developed state-of-the-art machine learning (ML) and natural language processing (NLP) technologies and built a computerized algorithm for medication reconciliation. Our specific aims are: (1) to develop a computerized algorithm for medication discrepancy detection between patients' discharge prescriptions (structured data) and medications documented in free-text clinical notes (unstructured data); and (2) to assess the performance of the algorithm on real-world medication reconciliation data. Methods: We collected clinical notes and discharge prescription lists for all 271 patients enrolled in the Complex Care Medical Home Program at Cincinnati Children's Hospital Medical Center between 1/1/2010 and 12/31/2013. A double-annotated, gold-standard set of medication reconciliation data was created for this collection. We then developed a hybrid algorithm consisting of three processes: (1) a ML algorithm to identify medication entities from clinical notes, (2) a rule-based method to link medication names with their attributes, and (3) a NLP-based, hybrid approach to match medications with structured prescriptions in order to detect medication discrepancies. The performance was validated on the gold-standard medication reconciliation data, where precision (P), recall (R), F-value (F) and workload were assessed. Results: The hybrid algorithm achieved 95.0%/91.6%/93.3% of P/R/F on medication entity detection and 98.7%/ 99.4%/99.1% of P/R/F on attribute linkage. The medication matching achieved 92.4%/90.7%/91.5% (P/R/F) on identifying matched medications in the gold-standard and 88.6%/82.5%/85.5% (P/R/F) on discrepant medications. By combining all processes, the algorithm achieved 92.4%/90.7%/91.5% (P/R/F) and 71.5%/65.2%/68.2% (P/R/F) on identifying the matched and the discrepant medications, respectively. The error analysis on algorithm outputs identified challenges to be addressed in order to improve medication discrepancy detection. Conclusion: By leveraging ML and NLP technologies, an end-to-end, computerized algorithm achieves promising outcome in reconciling medications between clinical notes and discharge prescriptions. [ABSTRACT FROM AUTHOR]

Background: The widespread use of electronic health records (EHRs) has generated massive clinical data storage. Association rules mining is a feasible technique to convert this large amount of data into usable knowledge for clinical decision making, research or billing. We present a data driven method to create a knowledge base linking medications to pathological conditions through their therapeutic indications from elements within the EHRs. Methods: Association rules were created from the data of patients hospitalised between May 2012 and May 2013 in the department of Cardiology at the University Hospital of Strasbourg. Medications were extracted from the medication list, and the pathological conditions were extracted from the discharge summaries using a natural language processing tool. Association rules were generated along with different interestingness measures: chi square, lift, conviction, dependency, novelty and satisfaction. All medication-disease pairs were compared to the Summary of Product Characteristics, which is the gold standard. A score based on the other interestingness measures was created to filter the best rules, and the indices were calculated for the different interestingness measures. Results: After the evaluation against the gold standard, a list of accurate association rules was successfully retrieved. Dependency represents the best recall (0.76). Our score exhibited higher exactness (0.84) and precision (0.27) than all of the others interestingness measures. Further reductions in noise produced by this method must be performed to improve the classification precision. Conclusions: Association rules mining using the unstructured elements of the EHR is a feasible technique to identify clinically accurate associations between medications and pathological conditions. [ABSTRACT FROM AUTHOR]

Background: Manual eligibility screening (ES) for a clinical trial typically requires a labor-intensive review of patient records that utilizes many resources. Leveraging state-of-the-art natural language processing (NLP) and information extraction (IE) technologies, we sought to improve the efficiency of physician decision-making in clinical trial enrollment. In order to markedly reduce the pool of potential candidates for staff screening, we developed an automated ES algorithm to identify patients who meet core eligibility characteristics of an oncology clinical trial. Methods: We collected narrative eligibility criteria from ClinicalTrials.gov for 55 clinical trials actively enrolling oncology patients in our institution between 12/01/2009 and 10/31/2011. In parallel, our ES algorithm extracted clinical and demographic information from the Electronic Health Record (EHR) data fields to represent profiles of all 215 oncology patients admitted to cancer treatment during the same period. The automated ES algorithm then matched the trial criteria with the patient profiles to identify potential trial-patient matches. Matching performance was validated on a reference set of 169 historical trial-patient enrollment decisions, and workload, precision, recall, negative predictive value (NPV) and specificity were calculated. Results: Without automation, an oncologist would need to review 163 patients per trial on average to replicate the historical patient enrollment for each trial. This workload is reduced by 85% to 24 patients when using automated ES (precision/recall/NPV/specificity: 12.6%/100.0%/100.0%/89.9%). Without automation, an oncologist would need to review 42 trials per patient on average to replicate the patient-trial matches that occur in the retrospective data set. With automated ES this workload is reduced by 90% to four trials (precision/recall/NPV/specificity: 35.7%/100.0%/ 100.0%/95.5%). Conclusion: By leveraging NLP and IE technologies, automated ES could dramatically increase the trial screening efficiency of oncologists and enable participation of small practices, which are often left out from trial enrollment. The algorithm has the potential to significantly reduce the effort to execute clinical research at a point in time when new initiatives of the cancer care community intend to greatly expand both the access to trials and the number of available trials. [ABSTRACT FROM AUTHOR]

Background: We develop medical-specialty specific ontologies that contain the settled science and common term usage. We leverage current practices in information and relationship extraction to streamline the ontology development process. Our system combines different text types with information and relationship extraction techniques in a low overhead modifiable system. Our SEmi-Automated ontology Maintenance (SEAM) system features a natural language processing pipeline for information extraction. Synonym and hierarchical groups are identified using corpus-based semantics and lexico-syntactic patterns. The semantic vectors we use are term frequency by inverse document frequency and context vectors. Clinical documents contain the terms we want in an ontology. They also contain idiosyncratic usage and are unlikely to contain the linguistic constructs associated with synonym and hierarchy identification. By including both clinical and biomedical texts, SEAM can recommend terms from those appearing in both document types. The set of recommended terms is then used to filter the synonyms and hierarchical relationships extracted from the biomedical corpus. We demonstrate the generality of the system across three use cases: ontologies for acute changes in mental status, Medically Unexplained Syndromes, and echocardiogram summary statements. Results: Across the three uses cases, we held the number of recommended terms relatively constant by changing SEAM's parameters. Experts seem to find more than 300 recommended terms to be overwhelming. The approval rate of recommended terms increased as the number and specificity of clinical documents in the corpus increased. It was 60% when there were 199 clinical documents that were not specific to the ontology domain and 90% when there were 2879 documents very specific to the target domain. We found that fewer than 100 recommended synonym groups were also preferred. Approval rates for synonym recommendations remained low varying from 43% to 25% as the number of journal articles increased from 19 to 47. Overall the number of recommended hierarchical relationships was very low although approval was good. It varied between 67% and 31%. Conclusion: SEAM produced a concise list of recommended clinical terms, synonyms and hierarchical relationships regardless of medical domain. [ABSTRACT FROM AUTHOR]

Background Identifying phrases that refer to particular concept types is a critical step in extracting information from documents. Provided with annotated documents as training data, supervised machine learning can automate this process. When building a machine learning model for this task, the model may be built to detect all types simultaneously (all-types-at-once) or it may be built for one or a few selected types at a time (one-type- or a-few-types-at-a-time). It is of interest to investigate which strategy yields better detection performance. Results Hidden Markov models using the different strategies were evaluated on a clinical corpus annotated with three concept types (i2b2/VA corpus) and a biology literature corpus annotated with five concept types (JNLPBA corpus). Ten-fold cross-validation tests were conducted and the experimental results showed that models trained for multiple concept types consistently yielded better performance than those trained for a single concept type. F-scores observed for the former strategies were higher than those observed for the latter by 0.9 to 2.6% on the i2b2/VA corpus and 1.4 to 10.1% on the JNLPBA corpus, depending on the target concept types. Improved boundary detection and reduced type confusion were observed for the all-types-at-once strategy. Conclusions The current results suggest that detection of concept phrases could be improved by simultaneously tackling multiple concept types. This also suggests that we should annotate multiple concept types in developing a new corpus for machine learning models. Further investigation is expected to gain insights in the underlying mechanism to achieve good performance when multiple concept types are considered. [ABSTRACT FROM AUTHOR]

Background: Cincinnati Children's Hospital Medical Center (CCHMC) has built the initial Natural Language Processing (NLP) component to extract medications with their corresponding medical conditions (Indications, Contraindications, Overdosage, and Adverse Reactions) as triples of medication-related information ([(1) drug name]-[(2) medical condition]-[(3) LOINC section header]) for an intelligent database system, in order to improve patient safety and the quality of health care. The Food and Drug Administration's (FDA) drug labels are used to demonstrate the feasibility of building the triples as an intelligent database system task. Methods: This paper discusses a hybrid NLP system, called AutoMCExtractor, to collect medical conditions (including disease/disorder and sign/symptom) from drug labels published by the FDA. Altogether, 6,611 medical conditions in a manually-annotated gold standard were used for the system evaluation. The pre-processing step extracted the plain text from XML file and detected eight related LOINC sections (e.g. Adverse Reactions, Warnings and Precautions) for medical condition extraction. Conditional Random Fields (CRF) classifiers, trained on token, linguistic, and semantic features, were then used for medical condition extraction. Lastly, dictionary-based postprocessing corrected boundary-detection errors of the CRF step. We evaluated the AutoMCExtractor on manuallyannotated FDA drug labels and report the results on both token and span levels. Results: Precision, recall, and F-measure were 0.90, 0.81, and 0.85, respectively, for the span level exact match; for the token-level evaluation, precision, recall, and F-measure were 0.92, 0.73, and 0.82, respectively. Conclusions: The results demonstrate that (1) medical conditions can be extracted from FDA drug labels with high performance; and (2) it is feasible to develop a framework for an intelligent database system. [ABSTRACT FROM AUTHOR]

Background: In recent years, biological event extraction has emerged as a key natural language processing task, aiming to address the information overload problem in accessing the molecular biology literature. The BioNLP shared task competitions have contributed to this recent interest considerably. The first competition (BioNLP'09) focused on extracting biological events from Medline abstracts from a narrow domain, while the theme of the latest competition (BioNLP-ST'11) was generalization and a wider range of text types, event types, and subject domains were considered. We view event extraction as a building block in larger discourse interpretation and propose a two-phase, linguistically-grounded, rule-based methodology. In the first phase, a general, underspecified semantic interpretation is composed from syntactic dependency relations in a bottom-up manner. The notion of embedding underpins this phase and it is informed by a trigger dictionary and argument identification rules. Coreference resolution is also performed at this step, allowing extraction of inter-sentential relations. The second phase is concerned with constraining the resulting semantic interpretation by shared task specifications. We evaluated our general methodology on core biological event extraction and speculation/negation tasks in three main tracks of BioNLP-ST'11 (GENIA, EPI, and ID). Results: We achieved competitive results in GENIA and ID tracks, while our results in the EPI track leave room for improvement. One notable feature of our system is that its performance across abstracts and articles bodies is stable. Coreference resolution results in minor improvement in system performance. Due to our interest in discourse-level elements, such as speculation/negation and coreference, we provide a more detailed analysis of our system performance in these subtasks. Conclusions: The results demonstrate the viability of a robust, linguistically-oriented methodology, which clearly distinguishes general semantic interpretation from shared task specific aspects, for biological event extraction. Our error analysis pinpoints some shortcomings, which we plan to address in future work within our incremental system development methodology. [ABSTRACT FROM AUTHOR]

We present the preparation, resources, results and analysis of three tasks of the BioNLP Shared Task 2011: the main tasks on Infectious Diseases (ID) and Epigenetics and Post-translational Modifications (EPI), and the supporting task on Entity Relations (REL). The two main tasks represent extensions of the event extraction model introduced in the BioNLP Shared Task 2009 (ST'09) to two new areas of biomedical scientific literature, each motivated by the needs of specific biocuration tasks. The ID task concerns the molecular mechanisms of infection, virulence and resistance, focusing in particular on the functions of a class of signaling systems that are ubiquitous in bacteria. The EPI task is dedicated to the extraction of statements regarding chemical modifications of DNA and proteins, with particular emphasis on changes relating to the epigenetic control of gene expression. By contrast to these two applicationoriented main tasks, the REL task seeks to support extraction in general by separating challenges relating to part-of relations into a subproblem that can be addressed by independent systems. Seven groups participated in each of the two main tasks and four groups in the supporting task. The participating systems indicated advances in the capability of event extraction methods and demonstrated generalization in many aspects: from abstracts to full texts, from previously considered subdomains to new ones, and from the ST'09 extraction targets to other entities and events. The highest performance achieved in the supporting task REL, 58% F-score, is broadly comparable with levels reported for other relation extraction tasks. For the ID task, the highest-performing system achieved 56% Fscore, comparable to the state-of-the-art performance at the established ST'09 task. In the EPI task, the best result was 53% F-score for the full set of extraction targets and 69% F-score for a reduced set of core extraction targets, approaching a level of performance sufficient for user-facing applications. In this study, we extend on previously reported results and perform further analyses of the outputs of the participating systems. We place specific emphasis on aspects of system performance relating to real-world applicability, considering alternate evaluation metrics and performing additional manual analysis of system outputs. We further demonstrate that the strengths of extraction systems can be combined to improve on the performance achieved by any system in isolation. The manually annotated corpora, supporting resources, and evaluation tools for all tasks are available from http://www. bionlp-st.org and the tasks continue as open challenges for all interested parties. [ABSTRACT FROM AUTHOR]

Background: The integration of the rapidly expanding corpus of information about the genome, transcriptome, and proteome, engendered by powerful technological advances, such as microarrays, and the availability of genomic sequence from multiple species, challenges the grasp and comprehension of the scientific community. Despite the existence of text-mining methods that identify biological relationships based on the textual co-occurrence of gene/protein terms or similarities in abstract texts, knowledge of the underlying molecular connections on a large scale, which is prerequisite to understanding novel biological processes, lags far behind the accumulation of data. While computationally efficient, the co-occurrence-based approaches fail to characterize (e.g., inhibition or stimulation, directionality) biological interactions. Programs with natural language processing (NLP) capability have been created to address these limitations, however, they are in general not readily accessible to the public. Results: We present a NLP-based text-mining approach, Chilibot, which constructs content-rich relationship networks among biological concepts, genes, proteins, or drugs. Amongst its features, suggestions for new hypotheses can be generated. Lastly, we provide evidence that the connectivity of molecular networks extracted from the biological literature follows the power-law distribution, indicating scale-free topologies consistent with the results of previous experimental analyses. Conclusions: Chilibot distills scientific relationships from knowledge available throughout a wide range of biological domains and presents these in a content-rich graphical format, thus integrating general biomedical knowledge with the specialized knowledge and interests of the user. [ABSTRACT FROM AUTHOR]

Background: The ability to express the same meaning in different ways is a well-known property of natural language. This amazing property is the source of major difficulties in natural language processing. Given the constant increase in published literature, its curation and information extraction would strongly benefit from efficient automatic processes, for which corpora of sentences evaluated by experts are a valuable resource. Results: Given our interest in applying such approaches to the benefit of curation of the biomedical literature, specifically that about gene regulation in microbial organisms, we decided to build a corpus with graded textual similarity evaluated by curators and that was designed specifically oriented to our purposes. Based on the predefined statistical power of future analyses, we defined features of the design, including sampling, selection criteria, balance, and size, among others. A non-fully crossed study design was applied. Each pair of sentences was evaluated by 3 annotators from a total of 7; the scale used in the semantic similarity assessment task within the Semantic Evaluation workshop (SEMEVAL) was adapted to our goals in four successive iterative sessions with clear improvements in the agreed guidelines and interrater reliability results. Alternatives for such a corpus evaluation have been widely discussed. Conclusions: To the best of our knowledge, this is the first similarity corpus—a dataset of pairs of sentences for which human experts rate the semantic similarity of each pair—in this domain of knowledge. We have initiated its incorporation in our research towards high-throughput curation strategies based on natural language processing. [ABSTRACT FROM AUTHOR]

Background: In the past few years, neural word embeddings have been widely used in text mining. However, the vector representations of word embeddings mostly act as a black box in downstream applications using them, thereby limiting their interpretability. Even though word embeddings are able to capture semantic regularities in free text documents, it is not clear how different kinds of semantic relations are represented by word embeddings and how semantically-related terms can be retrieved from word embeddings.Methods: To improve the transparency of word embeddings and the interpretability of the applications using them, in this study, we propose a novel approach for evaluating the semantic relations in word embeddings using external knowledge bases: Wikipedia, WordNet and Unified Medical Language System (UMLS). We trained multiple word embeddings using health-related articles in Wikipedia and then evaluated their performance in the analogy and semantic relation term retrieval tasks. We also assessed if the evaluation results depend on the domain of the textual corpora by comparing the embeddings of health-related Wikipedia articles with those of general Wikipedia articles.Results: Regarding the retrieval of semantic relations, we were able to retrieve diverse semantic relations in the nearest neighbors of a given word. Meanwhile, the two popular word embedding approaches, Word2vec and GloVe, obtained comparable results on both the analogy retrieval task and the semantic relation retrieval task, while dependency-based word embeddings had much worse performance in both tasks. We also found that the word embeddings trained with health-related Wikipedia articles obtained better performance in the health-related relation retrieval tasks than those trained with general Wikipedia articles.Conclusion: It is evident from this study that word embeddings can group terms with diverse semantic relations together. The domain of the training corpus does have impact on the semantic relations represented by word embeddings. We thus recommend using domain-specific corpus to train word embeddings for domain-specific text mining tasks. [ABSTRACT FROM AUTHOR]

Background: Relationships between bio-entities (genes, proteins, diseases, etc.) constitute a significant part of our knowledge. Most of this information is documented as unstructured text in different forms, such as books, articles and on-line pages. Automatic extraction of such information and storing it in structured form could help researchers more easily access such information and also make it possible to incorporate it in advanced integrative analysis. In this study, we developed a novel approach to extract bio-entity relationships information using Nature Language Processing (NLP) and a graph-theoretic algorithm.Methods: Our method, called GRGT (Grammatical Relationship Graph for Triplets), not only extracts the pairs of terms that have certain relationships, but also extracts the type of relationship (the word describing the relationships). In addition, the directionality of the relationship can also be extracted. Our method is based on the assumption that a triplet exists for a pair of interactions. A triplet is defined as two terms (entities) and an interaction word describing the relationship of the two terms in a sentence. We first use a sentence parsing tool to obtain the sentence structure represented as a dependency graph where words are nodes and edges are typed dependencies. The shortest paths among the pairs of words in the triplet are then extracted, which form the basis for our information extraction method. Flexible pattern matching scheme was then used to match a triplet graph with unknown relationship to those triplet graphs with labels (True or False) in the database.Results: We applied the method on three benchmark datasets to extract the protein-protein-interactions (PPIs), and obtained better precision than the top performing methods in literature.Conclusions: We have developed a method to extract the protein-protein interactions from biomedical literature. PPIs extracted by our method have higher precision among other methods, suggesting that our method can be used to effectively extract PPIs and deposit them into databases. Beyond extracting PPIs, our method could be easily extended to extracting relationship information between other bio-entities. [ABSTRACT FROM AUTHOR]

In this editorial, we first summarize the 2nd International Workshop on Semantics-Powered Data Analytics (SEPDA 2017) held on November 13, 2017 in Kansas City, Missouri, U.S.A., and then briefly introduce 13 research articles included in this supplement issue, covering topics such as Semantic Integration, Deep Learning, Knowledge Base Construction, and Natural Language Processing. [ABSTRACT FROM AUTHOR]

Background: Secondary use of data collected in Electronic Health Records opens perspectives for increasing our knowledge of rare diseases. The clinical data warehouse (named Dr. Warehouse) at the Necker-Enfants Malades Children's Hospital contains data collected during normal care for thousands of patients. Dr. Warehouse is oriented toward the exploration of clinical narratives. In this study, we present our method to find phenotypes associated with diseases of interest.Methods: We leveraged the frequency and TF-IDF to explore the association between clinical phenotypes and rare diseases. We applied our method in six use cases: phenotypes associated with the Rett, Lowe, Silver Russell, Bardet-Biedl syndromes, DOCK8 deficiency and Activated PI3-kinase Delta Syndrome (APDS). We asked domain experts to evaluate the relevance of the top-50 (for frequency and TF-IDF) phenotypes identified by Dr. Warehouse and computed the average precision and mean average precision.Results: Experts concluded that between 16 and 39 phenotypes could be considered as relevant in the top-50 phenotypes ranked by descending frequency discovered by Dr. Warehouse (resp. between 11 and 41 for TF-IDF). Average precision ranges from 0.55 to 0.91 for frequency and 0.52 to 0.95 for TF-IDF. Mean average precision was 0.79. Our study suggests that phenotypes identified in clinical narratives stored in Electronic Health Record can provide rare disease specialists with candidate phenotypes that can be used in addition to the literature.Conclusions: Clinical Data Warehouses can be used to perform Next Generation Phenotyping, especially in the context of rare diseases. We have developed a method to detect phenotypes associated with a group of patients using medical concepts extracted from free-text clinical narratives. [ABSTRACT FROM AUTHOR]