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2012 IEEE Second International Conference on Healthcare Informatics, Imaging and Systems Biology最新文献

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LineageProfiler: Automated Classification and Visualization of Cell Type Identity for Mammalian Transcriptomes LineageProfiler:哺乳动物转录组细胞类型识别的自动分类和可视化
N. Salomonis
Both microarray and next generation RNA sequencing methods have vastly improved our ability to detect transcript variation underlying organism development and disease. While many tools exist to assess gene and transcript variation, there is a paucity of methods to evaluate cell type identity relative to the hundreds of known adult and progenitor cell types. Such methods are sorely needed to understand which cell types are present within a biological sample, particularly during lineage restricted in vitro stem cell differentiation. We have developed LineageProfiler as a component of the AltAnalyze analysis package (http://www.altanalyze.org), to analyze and visualize transcriptome correlations to a large compendium of tissues, isolated cell types or progenitor states. Unlike related methods, LineageProfiler can utilize gene or exon expression profiles from either microarray or next generation sequencing data to derive correlations. Associated Z scores are automatically visualized along a comprehensive lineage network or as a clustered heatmap. Through integration with the tool GO-Elite (http://www.genmapp.org/go_elite), underlying biomarkers are used to evaluate enrichment of cell types between conditions and samples. This approach has been successful at accurately identifying known populations of differentiating cells in vitro from RNA-Seq, measuring the relative abundance of cell types from mixed tissue experiments and identifying contamination due to inconsistent tissue dissection.
微阵列和下一代RNA测序方法都极大地提高了我们检测生物体发育和疾病背后的转录物变异的能力。虽然存在许多工具来评估基因和转录物变异,但相对于数百种已知的成人和祖细胞类型,评估细胞类型身份的方法缺乏。这种方法是迫切需要的,以了解哪些细胞类型存在于一个生物样本中,特别是在谱系限制体外干细胞分化。我们已经开发了LineageProfiler作为AltAnalyze分析包(http://www.altanalyze.org)的一个组成部分,用于分析和可视化转录组与组织,分离细胞类型或祖细胞状态的大概要的相关性。与相关方法不同,LineageProfiler可以利用来自微阵列或下一代测序数据的基因或外显子表达谱来推导相关性。相关的Z分数自动可视化沿着一个全面的谱系网络或作为一个聚集的热图。通过与GO-Elite (http://www.genmapp.org/go_elite)工具的整合,潜在的生物标志物用于评估条件和样品之间细胞类型的富集。这种方法已经成功地从RNA-Seq中准确地鉴定出体外分化细胞的已知群体,从混合组织实验中测量细胞类型的相对丰度,并鉴定由于不一致的组织解剖而造成的污染。
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引用次数: 0
MAAMD: A Workflow to Standardize Meta-Analyses of Affymetrix Microarray Data MAAMD:一个标准化Affymetrix微阵列数据元分析的工作流程
Zhuohui Gan, Jianwu Wang, N. Salomonis, I. Altintas, A. McCulloch, A. Zambon
In this paper, an extensible workflow, named MAAMD, is constructed to facilitate and standardize Affymetrix meta-analyses using Kepler, an open-source software that supports user-customized scientific workflows.
本文使用支持用户自定义科学工作流的开源软件Kepler,构建了一个可扩展的工作流MAAMD,以促进和标准化Affymetrix元分析。
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引用次数: 0
Detecting Adverse Drug Reactions Using Inpatient Medication Orders and Laboratory Tests Data 利用住院病人用药单和实验室检测数据检测药物不良反应
Mei Liu, M. Matheny, Yonghui Wu, E. M. Hinz, J. Denny, J. Schildcrout, R. Miller, Hua Xu
Introduction: Medication safety requires monitoring throughout a drug's market life. Early detection of adverse drug reactions (ADRs) can lead to alerts that prevent patient harm. Recently, electronic medical records (EMRs) have emerged as a valuable resource for pharmacovigilance. This study examines the use of retrospective medication orders and inpatient laboratory results in the EMR to identify ADRs. Methods: Using 12 years of EMR data, we designed a study to correlate abnormal laboratory results with specific drug orders by comparing outcomes of a drug-exposed group and a matched unexposed group. We assessed the relative merits of six pharmacovigilance methods used in spontaneous reporting systems (SRS), including proportional reporting ratio (PRR), reporting odds ratio (ROR), Yule's Q, the Chi-square test, Bayesian confidence propagation neural networks (BCPNN) and a gamma Poisson shrinker (GPS). The time of admission was set as "day zero" and all drug orders and laboratory results timings were represented as days elapsed since that time until discharge. Each patient in the exposed group was randomly matched to four unexposed patients by age group, gender, race, and major diagnoses based on ICD9 codes.
导读:药物安全需要在药物的整个市场生命周期内进行监测。早期发现药物不良反应(adr)可以发出警报,防止患者受到伤害。最近,电子病历(EMRs)已成为药物警戒的宝贵资源。本研究考察了EMR中回顾性用药单和住院患者实验室结果的使用,以确定adr。方法:利用12年的电子病历数据,我们设计了一项研究,通过比较药物暴露组和匹配的未暴露组的结果,将异常实验室结果与特定药物订单联系起来。我们评估了自发报告系统(SRS)中使用的六种药物警戒方法的相对优点,包括比例报告比(PRR)、报告优势比(ROR)、Yule’s Q、卡方检验、贝叶斯置信传播神经网络(BCPNN)和伽玛泊松收缩器(GPS)。入院时间设置为“零日”,所有药物订单和实验室结果时间以从该时间到出院的天数表示。根据ICD9编码,根据年龄、性别、种族和主要诊断结果,将暴露组中的每名患者随机与4名未暴露患者配对。
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引用次数: 1
Evaluation of Segmentation Algorithms in CT Scanning CT扫描分割算法的评价
Seemeen Karimi, Xiaoqian Jiang, P. Cosman, H. Martz
We developed a method to evaluate the accuracy of segmentation algorithms. Oversegmentation, undersegmentation, missing and spurious labels may all appear concurrently in machine segmented images. Segmentation algorithms make systematic errors and have different optimal operating ranges. Existing methods of segmentation evaluation do not evaluate these details. Our method, based on multiple feature recovery, reports systematic errors and indicates optimal operating ranges of features, besides measuring overall errors. A knowledge of the magnitude and type of errors can be used for tuning or selecting segmentation algorithms. Although our method was developed for CT scanning for security, it is applicable to other fields, including medical imaging, where multi-object feature recovery, non-uniform costs and a knowledge of optimal operating ranges are helpful.
我们开发了一种方法来评估分割算法的准确性。在机器分割的图像中,过分割、欠分割、缺失和虚假标签都可能同时出现。分割算法存在系统误差,且具有不同的最优操作范围。现有的分割评价方法没有对这些细节进行评价。我们的方法基于多个特征恢复,除了测量总体误差外,还可以报告系统误差并指出特征的最佳工作范围。对误差大小和类型的了解可以用于调整或选择分割算法。虽然我们的方法是为CT扫描的安全性而开发的,但它也适用于其他领域,包括医学成像,其中多目标特征恢复,不均匀成本和最佳操作范围的知识是有帮助的。
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引用次数: 1
Privacy-Preserving Biometric System for Secure Fingerprint Authentication 保护隐私的安全指纹认证生物识别系统
Shuang Wang, Xiaoqian Jiang, L. Ohno-Machado, Lijuan Cui, Samuel Cheng, H. Xiong
Privacy is an important concern when biometrics are used in authentication systems for accessing Electronic Health Records (EHR) or other biomedical research data repositories involving human subjects. Biometrics of individuals deserve careful protection because they contain sensitive information closely related to personal privacy (e.g., personal health, ethnic group, etc.) and the leakage of such information can be used to re-identify individuals. More importantly, biometrics are unique and they are not easily revocable. Existing secure biometric systems prevent attackers from collecting unprotected biometrics in databases, however, they cannot guarantee confidentiality in probing and transmitting biometrics.
在身份验证系统中使用生物识别技术访问电子健康记录(EHR)或其他涉及人类受试者的生物医学研究数据存储库时,隐私是一个重要问题。个人的生物特征应该得到认真保护,因为它们包含与个人隐私密切相关的敏感信息(例如,个人健康、种族群体等),这些信息的泄露可以用来重新识别个人。更重要的是,生物特征是独一无二的,不易撤销。现有的安全生物识别系统可以防止攻击者在数据库中收集未受保护的生物识别信息,但是,它们不能保证探测和传输生物识别信息的保密性。
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引用次数: 2
SecUre Privacy-presERving Medical Image CompRessiOn (SUPERMICRO) 安全保护隐私的医学图像压缩(SUPERMICRO)
Shuang Wang, Xiaoqian Jiang, L. Ohno-Machado, Lijuan Cui, Samuel Cheng
The privacy and security of biomedical data are important. Ideally, biomedical data should be kept in a secure manner (i.e. encrypted). With the increasing deployment of the electronic health records, it is critical to make protected health information (PHI) available securely to private and public healthcare providers through the National Health Information Network (NHIN). Efficient transmission and storage of these large encrypted biomedical data becomes an important concern. An intuitive way is to compress the encrypted biomedical data directly. Unfortunately, traditional compression algorithms (removing redundancy through exploiting the structure of data) fail to handle encrypted data. The reason is that encrypted data appear to be random and lack the structure in the original data. The "best" practice has been compressing the data before encryption, however, this is not appropriate for privacy related scenarios (e.g., biomedical application), where one wants to process data while keeping them encrypted and safe. In this paper, we develop a Secure Privacy-presERving Medical Image CompRessiOn (SUPERMICRO) framework based on distributed source coding (DSC), which makes the compression of the encrypted data possible without compromising security and compression efficiency. Our approach guarantees the data transmission and storage in a privacy-preserving manner. We tested our proposed framework on two CT image sequences and compared it with the state-of-the-art JPEG 2000 lossless compression. Experimental results demonstrated that the SUPERMICRO framework provides enhanced security and privacy protection, as well as high compression performance.
生物医学数据的隐私和安全非常重要。理想情况下,生物医学数据应以安全的方式保存(即加密)。随着越来越多地部署电子健康记录,通过国家健康信息网络(NHIN)向私人和公共医疗保健提供者安全地提供受保护的健康信息(PHI)至关重要。这些大型加密生物医学数据的有效传输和存储成为一个重要的问题。一种直观的方法是直接压缩加密后的生物医学数据。不幸的是,传统的压缩算法(通过利用数据结构去除冗余)无法处理加密数据。原因是加密后的数据看起来是随机的,缺乏原始数据的结构。“最佳”实践是在加密之前压缩数据,然而,这并不适合与隐私相关的场景(例如,生物医学应用程序),在这些场景中,人们希望在处理数据的同时保持数据的加密和安全。本文提出了一种基于分布式源编码(DSC)的安全保密医学图像压缩(SUPERMICRO)框架,该框架可以在不影响安全性和压缩效率的情况下对加密数据进行压缩。我们的方法保证了数据传输和存储的隐私保护方式。我们在两个CT图像序列上测试了我们提出的框架,并将其与最先进的JPEG 2000无损压缩进行了比较。实验结果表明,SUPERMICRO框架提供了增强的安全性和隐私保护,以及高压缩性能。
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引用次数: 3
AltAnalyze - An Optimized Platform for RNA-Seq Splicing and Domain-Level Analyses 一个优化的RNA-Seq剪接和结构域级分析平台
N. Salomonis
The deep sequencing of transcriptomes has revolutionized our ability to detect known and novel RNA variants at a never before observed resolution. To capitalize on these ever improving technologies, we require functionally rich methods of annotation to predict and evaluate the consequences of RNA isoform variation at the level of proteins, domains and microRNA binding sites. We introduce a new version of the popular open-source application AltAnalyze, capable of analyzing RNA-Sequencing (RNA-Seq) datasets as well as splicing-sensitive or conventional arrays. This software can be run through an intuitive graphical user interface or command-line. Over 60 species and data from various RNA-Seq alignment workflows are immediately supported without any specialized configuration. AltAnalyze provides multiple options for gene expression quantification, filtering, quality control and biological interpretation. Hierarchical clustering heatmaps, principal component analysis plots, lineage correlation diagrams and visualization of enriched pathways are automatically produced for differentially expressed genes. For detection of alternative splicing, promoter or polyadenylation events, AltAnalyze combines both reciprocal-junction and alternative-exon expression approaches to identify annotated and novel RNA variation. By connecting these regulated splicing-events with optimal inclusion and exclusion isoforms, AltAnalyze is able to evaluate the impact of alternative RNA expression on protein domains, annotated motifs and binding sites for microRNAs. From a broader perspective, AltAnalyze examines the enrichment of effected domains and microRNA binding sites, to highlight the global impact of alternative splicing. Together, AltAnalyze provides an efficient, streamlined and comprehensive set of analysis results, to determine the biological impact of transcriptome regulation.
转录组的深度测序已经彻底改变了我们以前所未有的分辨率检测已知和新的RNA变异的能力。为了利用这些不断改进的技术,我们需要功能丰富的注释方法来预测和评估蛋白质、结构域和microRNA结合位点水平上RNA异构体变异的后果。我们介绍了流行的开源应用程序AltAnalyze的新版本,能够分析rna测序(RNA-Seq)数据集以及剪接敏感或传统阵列。该软件可以通过直观的图形用户界面或命令行运行。超过60个物种和数据从各种RNA-Seq校准工作流程立即支持,无需任何专门的配置。AltAnalyze为基因表达定量、过滤、质量控制和生物解释提供多种选择。对差异表达基因自动生成分层聚类热图、主成分分析图、谱系相关图和富集通路可视化。为了检测备选剪接、启动子或聚腺苷酸化事件,AltAnalyze结合了互结和备选外显子表达方法来识别注释和新的RNA变异。通过将这些受调节的剪接事件与最佳的包含和排除异构体连接起来,AltAnalyze能够评估替代RNA表达对蛋白质结构域、注释基序和microRNAs结合位点的影响。从更广泛的角度来看,AltAnalyze检测了受影响结构域和microRNA结合位点的富集程度,以突出选择性剪接的全球影响。总之,AltAnalyze提供了一套高效、简化和全面的分析结果,以确定转录组调控的生物学影响。
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引用次数: 3
Preparing Electronic Health Records Data for Comparative Effectiveness Studies 为比较有效性研究准备电子健康记录数据
M. Kahn, L. Schilling, Bethany M. Kwan, Aidan Bunting, Christopher A. Uhrich, C. Singleton
The growing availability of electronic clinical data is enabling new opportunities for large-scale distributed data-sharing networks that support comparative effectiveness research (CER). Data stored in electronic health records (EHRs) require substantial processing to be usable in distributed research networks (DRNs). We describe the functional features of ROSITA (Reusable OMOP and SAFTINet Interface Adaptor), a virtual machine package that performs many required functions to transform EHR data for use in distributed CER networks. ROSITA is a "middleware" component of SAFTINet, a multi-institutional DRN focused on CER studies to inform the care of safety net populations.
电子临床数据的日益普及为支持比较有效性研究(CER)的大规模分布式数据共享网络提供了新的机会。存储在电子健康记录(EHRs)中的数据需要经过大量处理才能在分布式研究网络(drn)中使用。我们描述了ROSITA(可重用OMOP和SAFTINet接口适配器)的功能特征,这是一个虚拟机包,它执行许多必要的功能来转换EHR数据以用于分布式CER网络。ROSITA是SAFTINet的一个“中间件”组件,SAFTINet是一个多机构DRN,专注于CER研究,为安全网人口的护理提供信息。
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引用次数: 3
A Semantic-Web Oriented Representation of Clinical Element Model for Secondary Use of Electronic Healthcare Data 面向语义web的临床元素模型表示,用于电子医疗数据的二次使用
C. Tao, Guoqian Jiang, T. Oniki, R. Freimuth, Jyotishman Pathak, Qian Zhu, Deepak K. Sharma, S. Huff, C. Chute
Healthcare system interoperability is one of the most important goals for Meaningful Use of the Electronic Health Records (EHR). It is essential to facilitate IT support for workflow management, decision support systems, and evidence-based healthcare, as well as secondary use of EHR across healthcare organizations. The Clinical Element Model (CEM) was designed to provide a consistent architecture for representing clinical information in EHR systems. The CEM has been adopted in the Strategic Health IT Advanced Research Project, secondary use of EHR (SHARPn) as the common unified information model for unambiguous data representation, interpretation, and exchange within and across heterogeneous sources and applications.
医疗系统互操作性是电子健康记录(EHR)有意义使用的最重要目标之一。这对于促进对工作流管理、决策支持系统和循证医疗保健的It支持以及在医疗保健组织中二次使用EHR至关重要。临床元素模型(CEM)旨在为EHR系统中表示临床信息提供一致的体系结构。CEM已被战略卫生IT高级研究项目采用,作为EHR (SHARPn)的二次使用,作为异构源和应用程序内部和之间明确的数据表示、解释和交换的通用统一信息模型。
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引用次数: 2
Comparison of Association Rule Mining and Crowdsourcing for Automated Generation of a Problem-Medication Knowledge Base 关联规则挖掘与众包在问题药物知识库自动生成中的比较
A. McCoy, Dean F. Sittig, A. Wright
Increased amounts of data contained in electronic health records (EHRs) has led to inefficiencies for clinicians trying to locate relevant patient information. Automated summarization tools that create condition-specific data displays rather than current displays by data type have the potential to greatly improve clinician efficiency. These tools require new kinds of clinical knowledge (e.g., problem-medication relationships) that is difficult to obtain. We compared association rule mining and crowdsourcing as automated methods for generating a knowledge base of problem-medication pairs using a single source of clinical data from a commercially available EHR. The association rule mining and crowdsourcing approaches identified 19,586 and 31,440 pairs respectively. When comparing the top 500 pairs from each approach, only 186 overlapped. Manual inspection of the pairs indicated that crowdsourcing identified mostly common relationships, while association rule mining identified a combination of common and rare relationships. These findings indicate that the approaches are complementary, and further research is necessary to combine the approaches and better evaluate the approaches to generate an all-inclusive, highly accurate problem-medication knowledge base.
电子健康记录(EHRs)中包含的数据量的增加导致临床医生在查找相关患者信息时效率低下。自动汇总工具可以创建特定于条件的数据显示,而不是按数据类型显示当前数据,这有可能大大提高临床医生的效率。这些工具需要难以获得的新型临床知识(例如,问题与药物的关系)。我们比较了关联规则挖掘和众包作为自动生成问题-药物对知识库的方法,使用来自商业电子病历的单一临床数据来源。关联规则挖掘和众包方法分别识别了19586对和31440对。当比较每种方法的前500对时,只有186对重叠。对数据对的人工检查表明,众包识别了大多数常见关系,而关联规则挖掘识别了常见和罕见关系的组合。这些发现表明,这些方法是互补的,有必要进一步研究将这些方法结合起来,更好地评估方法,以产生一个全面的、高度准确的问题药物知识库。
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引用次数: 8
期刊
2012 IEEE Second International Conference on Healthcare Informatics, Imaging and Systems Biology
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