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Use of Bayesian networks to dissect the complexity of genetic disease: application to the Genetic Analysis Workshop 17 simulated data

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BMC proceedings 2011年第9期5 Suppl 9卷 S37页

作者： Jia Kang Wei Zheng Lun Li Joon Sang Lee Xiting Yan Hongyu Zhao Interdepartmental Program in Computational Biology and Bioinformatics Yale University PO Box 208009 New Haven CT 06520-8114 USA. hongyu.zhao@yale.edu.

Complex diseases are often the downstream event of a number of risk factors, including both environmental and genetic variables. To better understand the mechanism of disease onset, it is of great interest to systematically investigate the crosstalk among various risk factors. Bayesian networks provide an intuitive graphical interface that captures not only the association but also the conditional independence and dependence structures among the variables, resulting in sparser relationships between risk factors and the disease phenotype than traditional correlation-based methods. In this paper, we apply a Bayesian network to dissect the complex regulatory relationships among disease traits and various risk factors for the Genetic Analysis Workshop 17 simulated data. We use the Bayesian network as a tool for the risk prediction of disease outcome.

关键词： Bayesian Network Disease Phenotype Area Under Curve Conditional Independence Risk Prediction Model

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Association between response to brief trastuzumab exposure in cell lines and early stage HER2+ breast tumors 11

Association between response to brief trastuzumab exposure i...

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2011 ACM Conference on bioinformatics, computational biology and Biomedicine, ACM-BCB 2011

作者： Sprecher, Emmett Sarkar, Sudipa Kleinstein, Steven H. Narayan, Murli Winer, Eric Tuck, David Lezon-Geyda, Kimberly Krop, Ian Harris, Lyndsay Department of Pathology Pathology Informatics United States Interdepartmental Program in Computational Biology and Bioinformatics United States Medical Oncology Yale Cancer Center United States School of Medicine Yale University New Haven CT United States Department of Medical Oncology Dana-Farber Cancer Institute Boston MA United States

ISBN: (纸本)9781450307963

Human epidermal growth factor receptor 2 amplified (HER2+) breast cancer is common and aggressive. Trastuzumab is a targeted therapy to the HER2 cell surface receptor and has greatly improved prognosis for HER2+ breast cancer patients, but trastuzumab-resistance is a significant problem. Few biomarkers of trastuzumab resistance of response have been found, and there has been tremendous difficulty identifying in vitro biomarkers that transfer to the in vivo HER2+ breast cancer setting. We identified gene expression signatures of trastuzumabresponse and trastuzumab-resistance in HER2+ breast cancer cell lines across 24-hour exposure to trastuzumab. A set of 180-genes changed significantly in a trastuzumab-sensitive HER2+ cell line (BT474) and 58 genes changed significantly across treatment in a trastuzumab-resistant HER2+ cell line (UACC812). To demonstrate that these signatures have clinical relevance, we applied them in vivo to gene expression profiles from early stage HER2+ breast tumors treated with a single dose of trastuzumab. We found that the BT474 trastuzumabresponsive signature was enriched among the changes in expression across treatment for responsive patients. The expression change for the BT474 signature genes was also able to partially cluster responsive and resistant breast tumors by outcome. A subset of the UACC812 trastuzumab-resistance signature was also enriched in the differential between responsive and resistant tumors prior to trastuzumab treatment. These results show for the first time that cell line-derived gene signatures can be useful in identifying whether breast cancer patients will ultimately benefit from trastuzumab treatment. This approach might one day be applied to enhance clinical treatment decisions. Copyright © 2011 ACM.

关键词： Gene expression

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AlzPharm: Integration of neurodegeneration data using RDF

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BMC bioinformatics 2007年第SUPPL. 3期8卷 1-12页

作者： Lam, Hugo Y.K. Marenco, Luis Clark, Tim Gao, Yong Kinoshita, June Shepherd, Gordon Miller, Perry Wu, Elizabeth Wong, Gwendolyn T. Liu, Nian Crasto, Chiquito Morse, Thomas Stephens, Susie Cheung, Kei-Hoi Interdepartmental Program in Computational Biology and Bioinformatics Yale University New Haven CT United States Center for Medical Informatics Yale University New Haven CT United States Department of Anesthesiology Yale University New Haven CT United States Department of Neurobiology Yale University New Haven CT United States Department of Molecular Cellular and Developmental Biology Yale University New Haven CT United States Department of Genetics Yale University New Haven CT United States Department of Computer Science Yale University New Haven CT United States Initiative in Innovative Computing Harvard University Cambridge MA United States Massachusetts General Hospital Boston MA United States Alzheimer Research Forum Burlington MA United States Oracle Burlington MA United States

Background: Neuroscientists often need to access a wide range of data sets distributed over the Internet. These data sets, however, are typically neither integrated nor interoperable, resulting in a barrier to answering complex neuroscience research questions. Domain ontologies can enable the querying heterogeneous data sets, but they are not sufficient for neuroscience since the data of interest commonly span multiple research domains. To this end, e-Neuroscience seeks to provide an integrated platform for neuroscientists to discover new knowledge through seamless integration of the very diverse types of neuroscience data. Here we present a Semantic Web approach to building this e-Neuroscience framework by using the Resource Description Framework (RDF) and its vocabulary description language, RDF Schema (RDFS), as a standard data model to facilitate both representation and integration of the data. Results: We have constructed a pilot ontology for BrainPharm (a subset of SenseLab) using RDFS and then converted a subset of the BrainPharm data into RDF according to the ontological structure. We have also integrated the converted BrainPharm data with existing RDF hypothesis and publication data from a pilot version of SWAN (Semantic Web Applications in Neuromedicine). Our implementation uses the RDF Data Model in Oracle Database 10g release 2 for data integration, query, and inference, while our Web interface allows users to query the data and retrieve the results in a convenient fashion. Conclusion: Accessing and integrating biomedical data which cuts across multiple disciplines will be increasingly indispensable and beneficial to neuroscience researchers. The Semantic Web approach we undertook has demonstrated a promising way to semantically integrate data sets created independently. It also shows how advanced queries and inferences can be performed over the integrated data, which are hard to achieve using traditional data integration approaches. Our pilot results su

关键词： Data integration

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A linked data graph approach to integration of immunological data

A linked data graph approach to integration of immunological...

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IEEE International Conference on bioinformatics and Biomedicine

作者： Syed Ahmad Chan Bukhari Jeff Mandell Steven H. Kleinstein Kei-Hoi Cheung Division of Computer Science Mathematics and Science Lesley H. & William L. Collins College of Professional Studies St. John's University Interdepartmental Program in Computational Biology and Bioinformatics Yale University Department of Pathology Interdepartmental Program in Computational Biology and Bioinformatics Yale University Department of Emergency Medicine and Yale Center for Medical Informatics Computationa Biology and Bioinformaticcs Yale University

ISBN: (纸本)9781728118680

Systems biology involves the integration of multiple data types (across different data sources) to offer a more complete picture of the biological system being studied. While many existing biological databases are implemented using the traditional SQL (Structured Query Language) database technology, NoSQL database technologies have been explored as a more relationship-based, flexible and scalable method of data integration. In this paper, we describe how to use the Neo4J graph database to integrate a variety of types of data sets in the context of systems vaccinology. Specifically, we have converted into a common graph model diverse types of vaccine response measurement data from the NIH/NIAID ImmPort data repository, pathway data from Reactome, influenza virus strains from WHO, and taxonomic data from NCBI Taxon. While Neo4J provides a graph-based query language (Cypher) for data retrieval, we develop a web-based dashboard for users to easily browse and visualize data without the need to learn Cypher. In addition, we have prototyped a natural language query interface for users to interact with our system. In conclusion, we demonstrate the feasibility of using a graph-based database for storing and querying immunological data with complex biological relationships. Querying a graph database through such relationships has the potential to reveal novel relationships among heterogeneous biological data.

关键词： ontology knowledgebase graph database immunology influenza vaccine graphic library Knowledge Bases Influenza Vaccines Ontology Immunology data integration Passwords DNA Integration integration data types Data sources SQL

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Local two-sample testing over graphs and point-clouds by random-walk distributions

arXiv

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arXiv 2020年

作者： Landa, Boris Qu, Rihao Chang, Joseph Kluger, Yuval Program in Applied Mathematics Yale University Department of Pathology Yale University School of Medicine Department of Statistics and Data Science Yale University Interdepartmental Program in Computational Biology and Bioinformatics Yale University Department of Immunology Yale School of Medicine

Rejecting the null hypothesis in two-sample testing is a fundamental tool for scientific discovery. Yet, aside from concluding that two samples do not come from the same probability distribution, it is often of interest to characterize how the two distributions differ. Given samples from two densities f1and f0, we consider the task of localizing occurrences of the inequality f1> f0. To avoid the challenges associated with high-dimensional space, we propose a general hypothesis testing framework where hypotheses are formulated adaptively to the data by conditioning on the combined sample from the two densities. We then investigate a special case of this framework where the notion of locality is captured by a random walk on a weighted graph constructed over this combined sample. We derive a tractable testing procedure for this case employing a type of scan statistic, and provide non-asymptotic lower bounds on the power and accuracy of our test to detect whether f1> f0in a local sense. Furthermore, we characterize the test's consistency according to a certain problem-hardness parameter, and show that our test achieves the minimax detection rate for this parameter. We conduct numerical experiments to validate our method, and demonstrate our approach on two real-world applications: detecting and localizing arsenic well contamination across the United States, and analyzing two-sample single-cell RNA sequencing data from melanoma *** Codes 62G10 Copyright © 2020, The Authors. All rights reserved.

关键词： Random processes

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Admixture mapping analysis in the context of GWAS with GAW18 data

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BMC proceedings 2014年第SUPPL 1期8卷 S3页

作者： Mengjie Chen Can Yang Cong Li Lin Hou Xiaowei Chen Hongyu Zhao Program in Computational Biology and Bioinformatics Yale University New Haven CT 06520 USA. Department of Biostatistics Yale School of Public Health Yale University New Haven CT 06520 USA. Program in Computational Biology and Bioinformatics Yale University New Haven CT 06520 USA

Admixture mapping is a disease-mapping strategy to identify disease susceptibility variants in an admixed population that is a result of mating between 2 historically separated populations differing in allele frequencies and disease prevalence. With the increasing availability of high-density genotyping data generated in genome-wide association studies, it is of interest to investigate how to apply admixture mapping in the context of the genome-wide association studies and how to adjust for admixture in association tests. In this study, we first evaluated 3 different local ancestry inference methods, LAMP, LAMP-LD, and MULTIMIX. Then we applied admixture mapping analysis based on estimated local ancestry. Finally, we performed association tests with adjustment for local ancestry.

关键词： Reference Panel Admixture Mapping Local Ancestry Native American Ancestry Human Genome Diversity Project

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Formalizing the representation of immune exposures for human immunology studies 9

Formalizing the representation of immune exposures for human...

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9th International Conference on Biological Ontology, ICBO 2018

作者： Vita, Randi Overton, James A. Cheung, Kei-Hoi Kleinstein, Steven H. Peters, Bjoern Division for Vaccine Discovery San Diego Institute for Allergy and Immunology San DiegoCA United States Department of Emergency Medicine Yale Center for Medical Informatics Yale School of Medicine New HavenCT United States Department of Pathology Yale School of Medicine New HavenCT United States Interdepartmental Program in Computational Biology and Bioinformatics Yale University New HavenCT United States

Human immunology studies typically examine how immune exposures associated with vaccinations, infectious, allergic or autoimmune diseases, or transplantations perturb the immune system with the goal to develop diagnostic tools and therapeutic interventions. While there are established approaches to formally represent the experimental data generated in such studies, which often comprises gene expression data, flow cytometry data, or serology data, the description of the immune exposures themselves is not well standardized. We here present a formal approach to represent immune exposures at a high level of granularity. We capture the exposure process (e.g. 'vaccination' or 'occurrence of allergic disease'), exposure material (e.g. 'Tdap vaccine' or 'House dust mite'), and the associated disease name and stage (e.g. 'allergic rhinitis' and 'chronic'). This representation scheme has been used successfully in the IEDB and an extended version has been adopted by HIPC to capture studies in ImmPort. We are reporting here on this scheme, our ongoing attempts to map the terms used to existing ontologies, and the challenges encountered. © 2018 CEUR-WS.

关键词： Ontology

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yale at "Discharge Me!": Evaluating Constrained Generation of Discharge Summaries with Unstructured and Structured Information 23

Yale at "Discharge Me!": Evaluating Constrained Generation o...

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23rd Meeting of the ACL Special Interest Group on Biomedical Natural Language Processing, BioNLP 2024

作者： Socrates, Vimig Huang, Thomas Ai, Xuguang Fereydooni, Soraya Chen, Qingyu Taylor, R. Andrew Chartash, David Department of Biomedical Informatics and Data Science Yale University School of Medicine United States Department of Emergency Medicine Yale School of Medicine United States Program of Computational Biology and Bioinformatics Yale University United States School of Medicine University College Dublin National University of Ireland Dublin Ireland

ISBN: (纸本)9798891761308

In this work, we propose our top-ranking (2nd place) pipeline for the generation of discharge summary subsections as a part of the BioNLP 2024 Shared Task 2: "Discharge Me!". We evaluate both encoder-decoder and state-of-the-art decoder-only language models on the generation of two key sections of the discharge summary. To evaluate the ability of NLP methods to further alleviate the documentation burden on physicians, we also design a novel pipeline to generate the brief hospital course directly from structured information found in the EHR. Finally, we evaluate a constrained beam search approach to inject external knowledge about relevant patient problems into the text generation process. We find that a BioBART model fine-tuned on a larger fraction of the data without constrained beam search outperforms all other models.. ©2024 Association for computational Linguistics.

关键词： Decoding

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A pathway-based kernel boosting method for sample classification using genomic data

arXiv

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arXiv 2018年

作者： Zeng, Li Yu, Zhaolong Zhao, Hongyu Department of Biostatistics Yale University New HavenCT06511 United States Interdepartmental Program in Computational Biology and Bioinformatics Yale University New HavenCT06511 United States

The analysis of cancer genomic data has long suffered "the curse of dimensionality". Sample sizes for most cancer genomic studies are a few hundreds at most while there are tens of thousands of genomic features studied. Various methods have been proposed to leverage prior biological knowledge, such as pathways, to more effectively analyze cancer genomic data. Most of the methods focus on testing marginal significance of the associations between pathways and clinical phenotypes. They can identify relevant pathways, but do not involve predictive modeling. In this article, we propose a Pathway-based Kernel Boosting (PKB) method for integrating gene pathway information for sample classification, where we use kernel functions calculated from each pathway as base learners and learn the weights through iterative optimization of the classifica- tion loss function. We apply PKB and several competing methods to three cancer studies with pathological and clinical information, including tumor grade, stage, tumor sites, and metastasis status. Our results show that PKB outperforms other methods, and identifies pathways relevant to the outcome variables. Copyright © 2018, The Authors. All rights reserved.

关键词： Genes

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A Flow Artist for High-Dimensional Cellular Data 33

A Flow Artist for High-Dimensional Cellular Data

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33rd IEEE International Workshop on Machine Learning for Signal Processing, MLSP 2023

作者： MacDonald, Kincaid Bhaskar, Dhananjay Thampakkul, Guy Nguyen, Nhi Zhang, Joia Perlmutter, Michael Adelstein, Ian Krishnaswamy, Smita Yale University Department of Mathematics United States Pomona College Department of Mathematics United States University of Washington Department of Statistics United States Boise State University Department of Mathematics United States Yale University Department of Computer Science United States Yale University Applied Mathematics Program United States Yale University Computational Biology and Bioinformatics Program United States

ISBN: (纸本)9798350324112

We consider the problem of embedding point cloud data sampled from an underlying manifold with an associated flow or velocity. Such data arises in many contexts where static snapshots of dynamic entities are measured, including in high-throughput biology such as single-cell transcriptomics. Existing embedding techniques either do not utilize velocity information or embed the coordinates and velocities independently, i.e., they either impose velocities on top of an existing point embedding or embed points within a prescribed vector field. Here we present FlowArtist, a neural network that embeds points while jointly learning a vector field around the points. The combination allows FlowArtist to better separate and visualize velocity-informed structures. Our results, on toy datasets and single-cell RNA velocity data, illustrate the value of utilizing coordinate and velocity information in tandem for embedding and visualizing high-dimensional data. © 2023 IEEE.

关键词： RNA

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