A framework for identifying genotypic information from clinical records: exploiting integrated ontology structures to transfer annotations between ICD codes and Gene Ontologies

Although some methods are proposed for automatic ontology generation, none of them address the issue of integrating large-scale heterogeneous biomedical ontologies. We propose a novel approach for integrating various types of ontologies efficiently and apply it to integrate International Classification of Diseases, Ninth Revision, Clinical Modification (ICD9CM) and Gene Ontologies (GO). This approach is one of the early attempts to quantify the associations among clinical terms (e.g. ICD9 codes) based on their corresponding genomic relationships. We reconstructed a merged tree for a partial set of GO and ICD9 codes and measured the performance of this tree in terms of associations’ relevance by comparing them with two well-known disease-gene datasets (i.e. MalaCards and Disease Ontology). Furthermore, we compared the genomic-based ICD9 associations to temporal relationships between them from electronic health records. Our analysis shows promising associations supported by both comparisons suggesting a high reliability. We also manually analyzed several significant associations and found promising support from literature

Using rule-based natural language processing to improve disease normalization in biomedical text

Background and objective: In order for computers to extract useful information from unstructured text, a concept normalization system is needed to link relevant concepts in a text to sources that contain further information about the concept. Popular concept normalization tools in the biomedical field are dictionarybased. In this study we investigate the usefulness of natural language processing (NLP) as an adjunct to dictionary-based concept normalization. Methods: We compared the performance of two biomedical concept normalization systems, MetaMap and Peregrine, on the Arizona Disease Corpus, with and without the use of a rule-based NLP module. Performance was assessed for exact and inexact boundary matching of the system annotations with those of the gold standard and for concept identifier matching. Results: Without the NLP module, MetaMap and Peregrine attained F-scores of 61.0% and 63.9%, respectively, for exact boundary matching, and 55.1% and 56.9% for concept identifier matching. With the aid of the NLP module, the F-scores of MetaMap and Peregrine improved to 73.3% and 78.0% for boundary matching, and to 66.2% and 69.8% for concept identifier matching. For inexact boundary matching, performances further increased to 85.5% and 85.4%, and to 73.6% and 73.3% for concept identifier matching. Conclusions: We have shown the added value of NLP for the recognition and normalization of diseases with MetaMap and Peregrine. The NLP module is general and can be applied in combination with any concept normalization system. Whether its use for concept types other than disease is equally advantageous remains to be investigated

Learning signals of adverse drug-drug interactions from the unstructured text of electronic health records.

Drug-drug interactions (DDI) account for 30% of all adverse drug reactions, which are the fourth leading cause of death in the US. Current methods for post marketing surveillance primarily use spontaneous reporting systems for learning DDI signals and validate their signals using the structured portions of Electronic Health Records (EHRs). We demonstrate a fast, annotation-based approach, which uses standard odds ratios for identifying signals of DDIs from the textual portion of EHRs directly and which, to our knowledge, is the first effort of its kind. We developed a gold standard of 1,120 DDIs spanning 14 adverse events and 1,164 drugs. Our evaluations on this gold standard using millions of clinical notes from the Stanford Hospital confirm that identifying DDI signals from clinical text is feasible (AUROC=81.5%). We conclude that the text in EHRs contain valuable information for learning DDI signals and has enormous utility in drug surveillance and clinical decision support

Doctor of Philosophy

dissertationThe primary objective of cancer registries is to capture clinical care data of cancer populations and aid in prevention, allow early detection, determine prognosis, and assess quality of various treatments and interventions. Furthermore, the role of cancer registries is paramount in supporting cancer epidemiological studies and medical research. Existing cancer registries depend mostly on humans, known as Cancer Tumor Registrars (CTRs), to conduct manual abstraction of the electronic health records to find reportable cancer cases and extract other data elements required for regulatory reporting. This is often a time-consuming and laborious task prone to human error affecting quality, completeness and timeliness of cancer registries. Central state cancer registries take responsibility for consolidating data received from multiple sources for each cancer case and to assign the most accurate information. The Utah Cancer Registry (UCR) at the University of Utah, for instance, leads and oversees more than 70 cancer treatment facilities in the state of Utah to collect data for each diagnosed cancer case and consolidate multiple sources of information.Although software tools helping with the manual abstraction process exist, they mainly focus on cancer case findings based on pathology reports and do not support automatic extraction of other data elements such as TNM cancer stage information, an important prognostic factor required before initiating clinical treatment. In this study, I present novel applications of natural language processing (NLP) and machine learning (ML) to automatically extract clinical and pathological TNM stage information from unconsolidated clinical records of cancer patients available at the central Utah Cancer Registry. To further support CTRs in their manual efforts, I demonstrate a new approach based on machine learning to consolidate TNM stages from multiple records at the patient level

Making sense out of massive data by going beyond differential expression

With the rapid growth of publicly available high-throughput transcriptomic data, there is increasing recognition that large sets of such data can be mined to better understand disease states and mechanisms. Prior gene expression analyses, both large and small, have been dichotomous in nature, in which phenotypes are compared using clearly defined controls. Such approaches may require arbitrary decisions about what are considered “normal” phenotypes, and what each phenotype should be compared to. Instead, we adopt a holistic approach in which we characterize phenotypes in the context of a myriad of tissues and diseases. We introduce scalable methods that associate expression patterns to phenotypes in order both to assign phenotype labels to new expression samples and to select phenotypically meaningful gene signatures. By using a nonparametric statistical approach, we identify signatures that are more precise than those from existing approaches and accurately reveal biological processes that are hidden in case vs. control studies. Employing a comprehensive perspective on expression, we show how metastasized tumor samples localize in the vicinity of the primary site counterparts and are overenriched for those phenotype labels. We find that our approach provides insights into the biological processes that underlie differences between tissues and diseases beyond those identified by traditional differential expression analyses. Finally, we provide an online resource (http://concordia.csail.mit.edu) for mapping users’ gene expression samples onto the expression landscape of tissue and disease

Extracting Symptoms from Narrative Text using Artificial Intelligence

Indiana University-Purdue University Indianapolis (IUPUI)Electronic health records collect an enormous amount of data about patients. However, the information about the patient’s illness is stored in progress notes that are in an un- structured format. It is difficult for humans to annotate symptoms listed in the free text. Recently, researchers have explored the advancements of deep learning can be applied to pro- cess biomedical data. The information in the text can be extracted with the help of natural language processing. The research presented in this thesis aims at automating the process of symptom extraction. The proposed methods use pre-trained word embeddings such as BioWord2Vec, BERT, and BioBERT to generate vectors of the words based on semantics and syntactic structure of sentences. BioWord2Vec embeddings are fed into a BiLSTM neural network with a CRF layer to capture the dependencies between the co-related terms in the sentence. The pre-trained BERT and BioBERT embeddings are fed into the BERT model with a CRF layer to analyze the output tags of neighboring tokens. The research shows that with the help of the CRF layer in neural network models, longer phrases of symptoms can be extracted from the text. The proposed models are compared with the UMLS Metamap tool that uses various sources to categorize the terms in the text to different semantic types and Stanford CoreNLP, a dependency parser, that analyses syntactic relations in the sentence to extract information. The performance of the models is analyzed by using strict, relaxed, and n-gram evaluation schemes. The results show BioBERT with a CRF layer can extract the majority of the human-labeled symptoms. Furthermore, the model is used to extract symptoms from COVID-19 tweets. The model was able to extract symptoms listed by CDC as well as new symptoms

Developing a system for advanced monitoring and intelligent drug administration in critical care units using ontologies

Selected paper of the 16th International Conference on Knowledge-Based and Intelligent Information & Engineering Systems, 2012 September 10-12, San Sebastian, Spain[Abstract] When a patient enters an intensive care unit (ICU), either after surgery or due to a serious clinical condition, his vital signs are continually changing, forcing the medical experts to make rapid and complex decisions, which frequently imply modifications on the dosage of drugs being administered. Life of patients at critical units depends largely on the wisdom of such decisions. However, the human factor is sometimes a source of mistakes that lead to incorrect or inaccurate actions. This work presents an expert system based on a domain ontology that acquires the vital parameters from the patient monitor, analyzes them and provides the expert with a recommendation regarding the treatment that should be administered. If the expert agrees, the system modifies the drug infusion rates being supplied at the infusion pumps in order to improve the patient's physiological status. The system is being developed at the IMEDIR Center (A Coruña, Spain) and it is being tested at the cardiac intensive care unit (CICU) of the Meixoeiro Hospital (Vigo, Spain), which is a specific type of ICU exclusively aimed to treat patients who have underwent heart surgery or that are affected by a serious coronary disorder.Instituto de Salud Carlos III; FIS-PI10/02180Programa Iberoamericano de Ciencia y Tecnología para el Desarrollo; ref. 209RT0366Galicia. Consellería de Cultura, Educación e Ordenación Universitaria; CN2012/217Galicia. Consellería de Cultura, Educación e Ordenación Universitaria; CN2011/034Galcia. Consellería de Cultura, Educación e Ordenación Universitaria; CN2012/21