Proceedings. IEEE International Conference on Bioinformatics and Biomedicine最新文献

There are significant variabilities in clinicians' guideline-concordant documentation in asthma care. However, assessing clinicians' documentation is not feasible using only structured data but requires labor intensive chart review of electronic health records. Although the national asthma guidelines are available it is still challenging to use them as a real-time tool for providing feedback on adhering documentation guidelines for asthma care improvement. A certain guideline element, such as teaching or reviewing inhaler techniques, is difficult to capture by handcrafted rules since it requires contextual understanding of clinical narratives. This study examined a deep learning based natural language model, Bidirectional Encoder Representations from Transformers (BERT) coupled with distant supervision to identify inhaler techniques from clinical narratives. The BERT model with distant supervision outperformed the rule-based approach and achieved performance gain compared with the BERT without distant supervision.

Heart rate variability (HRV) analysis has been serving as a significant promising marker in clinical research over the last few decades. The rapidly growing heart rate data generated from various devices, particularly the electrocardiograph (ECG), need to be stored properly and processed timely. There is a pressing need to develop efficient approaches for performing HRV analyses based on ECG signals. In this paper, we introduce a cloud computing approach (called HRV-Spark) to compute HRV measures in parallel by leveraging Apache Spark and a QRS detection algorithm in [1]. We ran HRV-Spark on Amazon Web Services (AWS) clusters using large-scale datasets in the National Sleep Research Resource. We evaluated the performance and scalability of HRV-Spark in terms of the number of computing nodes in the AWS cluster, the size of the input datasets, and the hardware configuration of the computing nodes. The results show that HRV-Spark is an efficient and scalable approach for computing HRV measures.

Recent advances in our understanding of cancer progression have highlighted the roles played by molecular heterogeneity and by the tumor microenvironment in driving drug resistance and metastasis. The coupling of single-cell measurement technologies with algorithms, such as t-sne and SPADE, have enabled deep investigation of tumor heterogeneity. However, such techniques only capture molecular heterogeneity and do not enable the quantification nor visualization of intercellular interactions. They additionally do not allow the visualization of ecological niches that are critical to understanding tumor behavior. Novel computational tools to quantify and visualize spatial patterns in the tumor microenvironment are critically needed. Here, we take a tumor ecology perspective to examine how predation, mutualism, commensalism, and parasitism may impact tumor development and spatial patterning. We additionally quantify local spatial heterogeneity and the emergent global spatial behavior of the models using geostatistics. By visualizing emergent spatial patterns we demonstrate the potential utility of a geostatistical analysis in differentiating amongst cell-cell interactions in the tumor microenvironment. These studies introduce both an ecological framework for characterizing intercellular interactions in cancer and a novel way of quantifying and visualizing spatial patterns in cancer.

Breast cancer is the most prevalent and among the most deadly cancers in females. Patients with breast cancer have highly variable survival rates, indicating a need to identify prognostic biomarkers. By integrating multi-omics data (e.g., gene expression, DNA methylation, miRNA expression, and copy number variations (CNVs)), it is likely to improve the accuracy of patient survival predictions compared to prediction using single modality data. Therefore, we propose to develop a machine learning pipeline using decision-level integration of multi-omics tumor data from The Cancer Genome Atlas (TCGA) to predict the overall survival of breast cancer patients. With multi-omics data consisting of gene expression, methylation, miRNA expression, and CNVs, the top performing model predicted survival with an accuracy of 85% and area under the curve (AUC) of 87%. Furthermore, the model was able to identify which modalities best contributed to prediction performance, identifying methylation, miRNA, and gene expression as the best integrated classification combination. Our method not only recapitulated several breast cancer-specific prognostic biomarkers that were previously reported in the literature but also yielded several novel biomarkers. Further analysis of these biomarkers could lend insight into the molecular mechanisms that lead to poor survival.

Celiac Disease (CD) is a chronic autoimmune disease that affects the small intestine in genetically predisposed children and adults. Gluten exposure triggers an inflammatory cascade which leads to compromised intestinal barrier function. If this enteropathy is unrecognized, this can lead to anemia, decreased bone density, and, in longstanding cases, intestinal cancer. The prevalence of the disorder is 1% in the United States. An intestinal (duodenal) biopsy is considered the "gold standard" for diagnosis. The mild CD might go unnoticed due to non-specific clinical symptoms or mild histologic features. In our current work, we trained a model based on deep residual networks to diagnose CD severity using a histological scoring system called the modified Marsh score. The proposed model was evaluated using an independent set of 120 whole slide images from 15 CD patients and achieved an AUC greater than 0.96 in all classes. These results demonstrate the diagnostic power of the proposed model for CD severity classification using histological images.

About 44.4 million people have been diagnosed with dementia worldwide, and it is estimated that this number will be almost tripled by 2050. Predicting mild cognitive impairment (MCI), an intermediate state between normal cognition and dementia and an important risk factor for the development of dementia is crucial in aging populations. MCI is formally determined by health professionals through a comprehensive cognitive evaluation, together with a clinical examination, medical history and often the input of an informant (an individual that know the patient very well). However, this is not routinely performed in primary care visits, and could result in a significant delay in diagnosis. In this study, we used deep learning and machine learning techniques to predict the progression from cognitively unimpaired to MCI and also to analyze the potential for patient clustering using routinely-collected electronic health records (EHRs). Our analysis of EHRs indicates that temporal characteristics of patient data incorporated in a deep learning model provides increased power in predicting MCI.

Sharing of bioinformatics data within research communities holds the promise of facilitating more rapid discovery, yet the volume of data is growing at a pace exponentially greater than what traditional biocuration can support. We present here an approach that we have used to empower data producing researchers to curate high quality shared data that is ready for reuse and re-analysis.

Elevated serum chloride levels (hyperchloremia) and the administration of intravenous (IV) fluids with high chloride content have both been associated with increased morbidity and mortality in certain subgroups of critically ill patients, such as those with sepsis. Here, we demonstrate this association in a general intensive care unit (ICU) population using data from the Medical Information Mart for Intensive Care III (MIMIC-III) database and propose the use of supervised learning to predict hyperchloremia in critically ill patients. Clinical variables from records of the first 24h of adult ICU stays were represented as features for four predictive supervised learning classifiers. The best performing model was able to predict second-day hyperchloremia with an AUC of 0.80 and a ratio of 5 false alerts for every true alert, which is a clinically-actionable rate. Our results suggest that clinicians can be effectively alerted to patients at risk of developing hyperchloremia, providing an opportunity to mitigate this risk and potentially improve outcomes.

The adoption of electronic health records has increased the volume of clinical data, which has opened an opportunity for healthcare research. There are several biomedical annotation systems that have been used to facilitate the analysis of clinical data. However, there is a lack of clinical annotation comparisons to select the most suitable tool for a specific clinical task. In this work, we used clinical notes from the MIMIC-III database and evaluated three annotation systems to identify four types of entities: (1) procedure, (2) disorder, (3) drug, and (4) anatomy. Our preliminary results demonstrate that BioPortal performs well when extracting disorder and drug. This can provide clinical researchers with real-clinical insights into patient's health patterns and it may allow to create a first version of an annotated dataset.