Sungkyoung Choi, Sungyoung Lee, Iksoo Huh, Heungsun Hwang, T. Park
{"title":"Competitive pathway analysis using Structural Equation Models (CPA-SEM) for gene expression data","authors":"Sungkyoung Choi, Sungyoung Lee, Iksoo Huh, Heungsun Hwang, T. Park","doi":"10.1109/BIBM.2015.7359875","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359875","url":null,"abstract":"There is an increasing interest in the pathway analysis of multiple genes and complex traits in association studies. Recently, a number of methods of pathway analysis have been developed to detect the novel pathways associated with human complex traits. In this paper, we propose a novel statistical approach for competitive pathway analysis based on Structural Equation Modeling (CPA-SEM), taking advantage of prior knowledge on existing relationships between genes in a pathway. Our CPA-SEM identifies pathways associated with traits of interest. The CPA-SEM approach is different from the previous SEM-based approaches in that it considers all possible sub-pathways into account and performs permutation based robust analysis. We applied the proposed CPA-SEM method to gene expression data of gastric cancer (GSE27342), and found that mTOR signaling pathway was significantly associated with gastric cancer. This pathway has previously been reported to be associated with gastric cancer. In conclusion, our CPA-SEM analysis provides a better understanding of biological mechanism by identifying pathways associated with a trait of interest.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121215422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Min-Seok Kwon, Sungyoung Lee, Yongkang Kim, T. Park
{"title":"VizEpis : A visualization and mapping tool for interpreting epistasis","authors":"Min-Seok Kwon, Sungyoung Lee, Yongkang Kim, T. Park","doi":"10.1109/BIBM.2015.7359877","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359877","url":null,"abstract":"An important issue in genetic association studies is gene-gene interaction (epistasis) underlying common complex diseases that are affected by multiple genetic factors. Although many methods have been proposed to analyze epistasis, the interpretation of the identified gene-gene interactions is not straightforward. In order to efficiently provide the statistical interpretation and biological evidences of gene-gene interactions, we developed the VizEpis, a tool for visualizing of gene-gene interactions in genetic association analysis and mapping of epistatic interaction to the biological evidence from public interaction databases. Using interaction network and circular plot, the VizEpis provides to explore the interaction network integrated with biological evidences in epigenetic regulation, splicing, transcription, translation and post-translation level. To aid statistical interaction in genotype level, the VizEpis provides pairwise checkerboard, forest, and funnel. VizEpis provides for the user-specified variants with statistical interaction to find biological evidences.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"55 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126864193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Patel, Bharati Jhadav, Abdulrhman Aljouie, Usman Roshan
{"title":"Cross-validation and cross-study validation of chronic lymphocytic leukemia with exome sequences and machine learning","authors":"N. Patel, Bharati Jhadav, Abdulrhman Aljouie, Usman Roshan","doi":"10.1504/IJDMB.2016.10000562","DOIUrl":"https://doi.org/10.1504/IJDMB.2016.10000562","url":null,"abstract":"The era of genomics brings the potential of better DNA based risk prediction and treatment. While genome-wide association studies are extensively studied for risk prediction, the potential of using whole exome data for this purpose is unclear. We explore this problem for chronic lymphocytic leukemia that is one of the largest whole exome dataset of 186 case and 169 controls available from the NIH dbGaP database. We perform a standard next generation sequence procedure to obtain SNP variants on 153 cases and 144 controls after exclusion of samples with missing data. To evaluate their predictive power we first conduct a 50% training and 50% test cross-validation study on the full dataset with the support vector machine as the classifier. There we obtain a mean accuracy of 82% with top 20 ranked SNPs obtained by the Pearson correlation coefficient. We then perform a cross-study validation on case and controls from a lymphoma external study and just controls from head and neck cancer and breast cancer studies (all obtained from NIH dbGaP). On the external dataset we obtain an accuracy of 70% with top ranked SNPs obtained from the original dataset. We also find our top Pearson ranked SNPs to lie on previously implicated genes for this disease. Our study shows that even with a small sample size we can obtain moderate to high accuracy with exome sequences and is thus encouraging for future work.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"77 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126253486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Catherine P. Jayapandian, Wei Wang, Michael G. Morrical, Dennis A. Dean, Shiqiang Tao, Daniel R. Mobley, Matthew Kim, M. Rueschman, K. Loparo, S. Redline, Guoqiang Zhang
{"title":"RREV: Reconfigurable Rendering Engine for visualization of clinically annotated polysomnograms","authors":"Catherine P. Jayapandian, Wei Wang, Michael G. Morrical, Dennis A. Dean, Shiqiang Tao, Daniel R. Mobley, Matthew Kim, M. Rueschman, K. Loparo, S. Redline, Guoqiang Zhang","doi":"10.1109/BIBM.2015.7359700","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359700","url":null,"abstract":"In sleep medicine, clinical studies often use their own data dictionaries for capturing clinical sleep events using proprietary signal analysis software [1][2]. Visualization of polysomnograms and their associated events from multiple distinct studies, such as for the National Sleep Research Resource (NSRR)[3], is an unresolved issue. Currently, there is no known visualization software for the European Data Format (EDF) that can be dynamically configured to support rendering of sleep events for multiple vendor formats. To address this challenge, domain ontology has been developed as a part of NSRR to model all sleep medicine terms and concepts to provide a common schema for addressing the structural and semantic heterogeneity of multiple vendor formats [4]. A Reconfigurable Rendering Engine using Abstract Factory pattern [5] and domain ontology provides a standard interface for accessing ontology-enabled clinical events for the visualization of electrophysiological signals. About 11,078 polysomnograms (8,444 SHHS, 860 CHAT, 591 HeartBEAT, 730 CFS, 453 SOF) [12] in EDF have been processed resulting in 1.1TB of web-accessible and reusable PSGs with NSRR standardized event annotations.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"72 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126349483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mingzhen Zhao, Bo Xu, Hongfei Lin, Zhihao Yang, Jian Wang
{"title":"Discover potential adverse drug reactions using the skip-gram model","authors":"Mingzhen Zhao, Bo Xu, Hongfei Lin, Zhihao Yang, Jian Wang","doi":"10.1109/BIBM.2015.7359955","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359955","url":null,"abstract":"In these years, the adverse drug reactions (ADRs) have seriously impacted the people's health, and adverse drug event reporting systems become a key means to monitor the drug safety, in which healthcare professionals or drug consumers can submit the adverse drug event reports based on their experience or professional knowledge. However, with the increase of drugs, the number of the submitted reports increases rapidly, making it more and more difficult to capture all the ADRs manually. To tackle the problem, we develop a novel system to compute the similarities among the drugs and adverse reactions automatically from the reports. In the method, we represent the mentions of drugs and adverse reactions as distributed vectors using the skip-gram model, and discover the most potential adverse drug reactions based on the similarities.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127881437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Malphite: A convolutional neural network and ensemble learning based protein secondary structure predictor","authors":"Y. Li, T. Shibuya","doi":"10.1109/BIBM.2015.7359861","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359861","url":null,"abstract":"We developed a convolution neural networks (CNN) and ensemble learning based method, called Malphite, to predict protein secondary structures. Maphite has three sub-models: the 1st CNN, PSI-PRED and the 2nd CNN. The 1st CNN and PSI-PRED are used to predict the initial secondary structure based on the position specific scoring matrix generated from PSIBLAST. The 2nd CNN performs ensemble learning by combining the prediction result of the 1st CNN and PSI-PRED and generate the final predictions. Malphite achieved a Q3 score of 82.3% and 82.6% for independently built dataset of 400 and 538 proteins respectively, and 82.6% ten-fold-cross validated accuracy for a dataset of 3000 proteins. In addition, Malphite accomplished a remarkable Q3 score of 83.6% for 122 targets from CASP10 (Critical Assessment of protein Structure Prediction), surpassing any secondary structure prediction technique to date. For all four datasets, Malphite consistently makes 2% more accurate prediction than PSI-PRED, which is a significantly step towards the estimated upper limit of protein secondary structure prediction accuracy of 90%.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128938529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Deep neural network based protein-protein interaction extraction from biomedical literature","authors":"Zhehuan Zhao, Zhihao Yang, Ling Luo, Hongfei Lin, Jian Wang, Song Gao","doi":"10.1109/BIBM.2015.7359845","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359845","url":null,"abstract":"This paper presents a deep neural network-based protein-protein interactions (PPIs) information extraction approach which can learn complex and abstract features automatically from unlabeled data by unsupervised representation learning methods. This approach first employs the training algorithm of auto-encoders to initialize the parameters of a deep multilayer neural network. Then the gradient descent method using back-propagation is applied to train this deep multilayer neural network model. Experimental results on five public PPI corpora show that our method can achieve better performance than can a multilayer neural network. In addition, the performance comparison with APG also verifies the effectiveness of our method.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116551773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hybrid multi-threaded simulation of agent-based pandemic modeling using multiple GPUs","authors":"Barzan Shekh, E. Doncker, D. Prieto","doi":"10.1109/BIBM.2015.7359894","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359894","url":null,"abstract":"Epidemiology computation models are crucial for the assessment and control of public health crises. Agent-based simulations of pandemic influenza forecast the infectious disease spreading in order to help public health policy makers during emergencies. In such emergencies, decisions are required for public health preparedness in cycles of less than a day, and the agent-based model should be adaptable and tractable for quick and simple calibration with low computational overhead. GPU accelerated computing involves the use of graphics processing units (GPUs) in combination with the CPU to perform heterogeneous computing by offloading compute-intensive portions of the program to the GPU while the remaining program runs on the CPU. In this paper, we demonstrate the utilization of the hardware environment and software tools and discuss strategies for porting agent-based simulations to multiple GPUs. We further compare the performance of simulations using two or four GPUs with the sequential execution on the CPU, in terms of time and speedup. The multi-GPU implementations exhibit great performance and support populations with up to 100 million individuals.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"22 1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116857049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Forough Firoozbakht, Iman Rezaeian, A. Ngom, L. Rueda
{"title":"A new compact set of biomarkers for distinguishing among ten breast cancer subtypes","authors":"Forough Firoozbakht, Iman Rezaeian, A. Ngom, L. Rueda","doi":"10.1109/BIBM.2015.7359911","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359911","url":null,"abstract":"World-wide, one in nine women are diagnosed with breast cancer in their lifetime and breast cancer is the second leading cause of death among women. Accurate diagnosis of the specific subtypes of this disease is vital to ensure that the patients will have the best possible response to therapy. Using the newly proposed ten subtypes of breast cancer we hypothesized that machine learning techniques would offer many benefits for selecting the most informative biomarkers. Unlike existing gene selection approaches, we use a hierarchical classification approach that selects genes and builds the classifier concurrently. Our results support that this modified approach to gene selection yields a small subset of 82 genes that can predict each of these ten subtypes with accuracies ranging from 92% to 99%.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130998651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexander Luke Spedding, G. D. Fatta, M. Cannataro
{"title":"A Genetic Algorithm for the selection of structural MRI features for classification of Mild Cognitive Impairment and Alzheimer's Disease","authors":"Alexander Luke Spedding, G. D. Fatta, M. Cannataro","doi":"10.1109/BIBM.2015.7359909","DOIUrl":"https://doi.org/10.1109/BIBM.2015.7359909","url":null,"abstract":"This work investigates the problem of feature selection in neuroimaging features from structural MRI brain images for the classification of subjects as healthy controls, suffering from Mild Cognitive Impairment or Alzheimer's Disease. A Genetic Algorithm wrapper method for feature selection is adopted in conjunction with a Support Vector Machine classifier. In very large feature sets, feature selection is found to be redundant as the accuracy is often worsened when compared to an Support Vector Machine with no feature selection. However, when just the hippocampal subfields are used, feature selection shows a significant improvement of the classification accuracy. Three-class Support Vector Machines and two-class Support Vector Machines combined with weighted voting are also compared with the former and found more useful. The highest accuracy achieved at classifying the test data was 65.5% using a genetic algorithm for feature selection with a three-class Support Vector Machine classifier.","PeriodicalId":186217,"journal":{"name":"2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2015-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131086879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}