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GENOMEVIEWER: An Interactive Genomic Somatic Mutation Visualizer. GENOMEVIEWER:一个交互式基因组体细胞突变可视化工具。
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079477
Beatriz S. Kanzki, A. April
New Generation Sequencing (NGS) technologies offer new insights to researchers in the field of oncogenomics. These technologies provide valuable genetic information by rapidly detecting and identifying expected mutations to improve clinical treatments. To be used effectively, this large amount of data has to be processed, explored and interpreted carefully and quickly. Meanwhile, cancer research continues to publish new theories and findings based on large-scale collaborative projects that provide publicly available genomic and clinical cancer data. However, researchers have a hard time using the data to its full potential although it's readily available. Between the growing output size and complexity of NGS technologies, and the growing number of publicly available heterogeneous databases, processing and exploring this data can become a challenge for the average researcher. This paper presents GenomeViewer's functionalities, which specializes in visualization of somatic mutations in cancer genomics. This easy to use software will enable cancer researchers to seamlessly compare their data against publicly available resources. GenomeViewer uses "Big Data" technologies such as Spark and Parquet, and is based on the UC Berkeley's Analysis Data Model (ADAM) genomic format for cloud scale computing. Our hope is that GenomeViewer will become the preferred tool for viewing somatic mutations for researchers in cancer genomics.
新一代测序(NGS)技术为肿瘤基因组学领域的研究人员提供了新的见解。这些技术通过快速检测和识别预期的突变来改善临床治疗,从而提供有价值的遗传信息。为了有效地利用这些大量数据,必须仔细而快速地处理、探索和解释这些数据。与此同时,癌症研究继续发表基于大规模合作项目的新理论和发现,这些项目提供了公开可用的基因组和临床癌症数据。然而,研究人员很难充分利用这些数据,尽管这些数据很容易获得。在NGS技术不断增长的输出规模和复杂性之间,以及越来越多的公开可用的异构数据库之间,处理和探索这些数据对普通研究人员来说可能是一个挑战。本文介绍了GenomeViewer的功能,它专门用于癌症基因组学中体细胞突变的可视化。这个易于使用的软件将使癌症研究人员能够无缝地将他们的数据与公共可用资源进行比较。GenomeViewer使用Spark和Parquet等“大数据”技术,并基于加州大学伯克利分校的分析数据模型(ADAM)基因组格式,用于云规模计算。我们的希望是,GenomeViewer将成为癌症基因组学研究人员查看体细胞突变的首选工具。
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引用次数: 0
Big MRI Data Dissemination and Retrieval in a Multi-Cloud Hospital Storage System 多云医院存储系统中的MRI大数据传播与检索
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079507
A. Galletta, A. Celesti, F. Tusa, M. Fazio, P. Bramanti, M. Villari
Nowadays, we are observing an explosion in the proliferation of clinical data. In this context, a typical example of the well-known big data problem is represented by the huge amount of Magnetic Resonance Imaging (MRI) files that need to be stored and analysed. Although the Cloud computing technology can address such a demanding problem, data reliability, availability and privacy are three of the major concerns against the large scale adoption of Cloud storage systems in the healthcare context - this is why hospitals are reluctant to move the patients' data over the Cloud. In this paper, we focus on data reliability and availability and we discuss an approach that allows healthcare centres storing clinical data in a Multi-Cloud storage environment while guaranteeing patients' privacy. Experiments proved the feasibility of our approach.
如今,我们看到临床数据呈爆炸式增长。在这种情况下,一个众所周知的大数据问题的典型例子是需要存储和分析的大量磁共振成像(MRI)文件。尽管云计算技术可以解决如此苛刻的问题,但数据可靠性、可用性和隐私性是在医疗保健环境中大规模采用云存储系统的三个主要问题——这就是医院不愿将患者数据转移到云上的原因。在本文中,我们重点关注数据可靠性和可用性,并讨论了一种方法,该方法允许医疗保健中心在多云存储环境中存储临床数据,同时保证患者的隐私。实验证明了我们方法的可行性。
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引用次数: 7
Text Mining from Social Media for Public Health Applications 公共卫生应用的社交媒体文本挖掘
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079475
Joana M. Barros
Public Health is crucial to manage and monitor threats to the health of the population. In recent years, Twitter has been successfully applied to monitor diseases through its ability to provide near real-time data and proved to be an asset to the domain. This research aims to further explore capabilities of Twitter in the disease surveillance field by focusing on its geolocation feature and health mentions, identifiable through disease-specific language patterns present in Twitter messages.
公共卫生对于管理和监测对人口健康的威胁至关重要。近年来,Twitter通过其提供接近实时数据的能力成功地应用于疾病监测,并被证明是该领域的一项资产。本研究旨在进一步探索Twitter在疾病监测领域的能力,重点关注其地理定位功能和健康提及,通过Twitter消息中存在的疾病特定语言模式来识别。
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引用次数: 3
CCS Coding of Discharge Diagnoses via Deep Neural Networks 基于深度神经网络的放电诊断的CCS编码
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079498
Chadi Helwe, Shady Elbassuoni, Mirabelle Geha, E. Hitti, C. Obermeyer
A standard procedure in the medical domain is to code discharge diagnoses into a set of manageable categories known as the CCS codes. This is typically done by first manually coding the discharge diagnoses into the standard ICD codes and then using a one-to-one mapping between ICD and CCS codes. In this paper, we study the applicability of deep learning to perform automatic coding of discharge diagnoses into CCS codes. In particular, we build an LSTM network combined with a dense neural network that uses medically-trained word embeddings to code discharge diagnoses into single-level CCS codes. We also investigate the advantage of mapping discharge diagnoses into UMLS concepts before coding is carried out. Experimental results based on a large dataset of manually coded discharge diagnoses show that our deep-learning model outperforms the state-of-the-art automatic coding approaches and that the mapping to UMLS concepts consistently results in significant improvement in the coding accuracy.
医学领域的标准程序是将出院诊断编码为一组可管理的类别,称为CCS代码。这通常是通过首先手动将排放诊断编码到标准ICD代码中,然后使用ICD和CCS代码之间的一对一映射来完成的。在本文中,我们研究了深度学习在将放电诊断自动编码为CCS代码中的适用性。特别地,我们构建了一个LSTM网络与密集神经网络相结合,该网络使用医学训练的词嵌入将放电诊断编码为单级CCS代码。我们还研究了在编码之前将放电诊断映射到UMLS概念中的优势。基于手动编码出院诊断的大型数据集的实验结果表明,我们的深度学习模型优于最先进的自动编码方法,并且映射到UMLS概念一致地导致编码精度的显着提高。
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引用次数: 7
Who is Spreading Rumours about Vaccines?: Influential User Impact Modelling in Social Networks 谁在散播疫苗的谣言?:社交网络中的影响力用户影响模型
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079505
P. Kostkova, Vino Mano, H. Larson, W. Schulz
Vaccine hesitancy, traditionally linked to issues of trust, misinformation and prior beliefs, has been increasingly fuelled by influential groups on social media (SM) and the Internet. Analysis of news media and social networks (SN) accessible in real-time provides a new opportunity for detecting changes in public confidence in vaccines. However, different concerns are important in different regions, and reasons for hesitancy and the role of opinion leaders vary between sub-controversies in the broader vaccination debates. It is therefore important for public health professionals to gain an overview of the emerging debates in cyberspace, identify influential users and rumours, and assess their impact in order to know how to respond. The VAC Medi+Board project aims to visualise the diffusion of rumours through SN and assess the impact of key individuals. We include, as a case study, discussions during winter 2015-16 pertaining to the alleged side-effects of the HPV vaccine.
传统上与信任、错误信息和先前信念问题有关的疫苗犹豫,越来越多地受到社交媒体和互联网上有影响力的团体的推动。对可实时获取的新闻媒体和社会网络(SN)进行分析,为发现公众对疫苗信心的变化提供了新的机会。然而,在不同的地区,不同的关注点是重要的,在更广泛的疫苗接种辩论中,犹豫不决的原因和意见领袖的作用各不相同。因此,公共卫生专业人员必须全面了解网络空间中正在出现的辩论,确定有影响力的用户和谣言,并评估其影响,以便了解如何作出反应。VAC medii +Board项目旨在通过SN可视化谣言的传播,并评估关键人物的影响。作为案例研究,我们纳入了2015-16年冬季有关HPV疫苗所谓副作用的讨论。
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引用次数: 19
Risk Factors Linked to Influenza-like Illness as Identified from the Mexican Participatory Surveillance System: Risk Factors in ILI 墨西哥参与性监测系统确定的与流感样疾病相关的危险因素:流行性感冒的危险因素
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079471
C. Stephens, R. Rodríguez-Ramírez, V. Mireles, Sergio Hernández López, Concepción Garcia-Aguirre, J. Ortiz, N. Mantilla-Beniers
Internet-based monitoring of influenza-like illnesses (ILI) has become more common since its beginnings nearly a decade ago, both through estimates based on the number of searches for influenza-related terms (e.g., Google flu trends), or by means of participatory surveillance systems. The latter, often seen as ways of engaging people in matters of scientific and public health importance, gather a wealth of potentially valuable epidemiological information complementary to that obtained through the established disease surveillance networks and also usually absent from search-based web algorithms. We present a statistical analysis of the data from the Mexican monitoring website "Reporta" by which the risk factors linked to reporting of ILI symptoms as outcome among its participants are determined, and interpret these results based on current knowledge of the factors that influence transmission of infection resulting in disease. Besides standard factors associated with enhanced susceptibility to infection some novel behavioral factors linked to high risk were: (i) use of public transport; (ii) frequent contact with animals, and (iii) use of non-standard interventions, such as homeopathy. While close contact with large groups of people in public transportation is generally assumed to be important in disease spread, frequent contact with animals is not. Our results are consistent with previous observations that animals may serve as mobile fomites and hence increase the propensity to develop disease. We conclude that analysis of rich information sets from Internet-based systems may suggest novel ideas on disease spread that are worth following up with field research.
基于互联网的流感样疾病(ILI)监测自近十年前开始以来已经变得更加普遍,这既通过基于流感相关术语搜索数量的估计(例如,谷歌流感趋势),也通过参与式监测系统。后者通常被视为使人们参与重要的科学和公共卫生事务的方式,它收集了丰富的潜在有价值的流行病学信息,与通过已建立的疾病监测网络获得的信息相辅相成,这些信息通常也不在基于搜索的网络算法中。我们对来自墨西哥监测网站“Reporta”的数据进行了统计分析,通过该数据确定了与参与者报告ILI症状相关的风险因素,并根据目前对影响感染传播导致疾病的因素的了解来解释这些结果。除了与感染易感性增加相关的标准因素外,一些与高风险相关的新行为因素包括:(i)使用公共交通工具;(ii)经常与动物接触,以及(iii)使用非标准干预措施,如顺势疗法。虽然在公共交通工具上与一大群人的密切接触通常被认为是疾病传播的重要因素,但与动物的频繁接触并非如此。我们的结果与先前的观察一致,即动物可能作为流动的污染物,因此增加了患病的倾向。我们的结论是,对来自基于互联网的系统的丰富信息集的分析可能会提出关于疾病传播的新想法,值得进行实地研究。
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引用次数: 0
On Consolidated Predictive Model of the Natural History of Breast Cancer: Primary Tumor and Secondary Metastases in Patients with Lymph Nodes Metastases 乳腺癌自然史的综合预测模型:淋巴结转移患者的原发肿瘤和继发转移
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079461
E. Tyuryumina, A. Neznanov
This paper is devoted to mathematical modelling of the progression and stages of breast cancer. The "Consolidated mathematical growth Model of primary tumor (PT) and secondary distant metastases (MTS) in patients with lymph nodes MTS (Stage III)" (CoM-III) is proposed as a new research tool. The CoM-III rests on an exponential tumor growth model and consists of a system of determinate nonlinear and linear equations. The CoM-III describes correctly primary tumor growth (parameter T) and distant metastases growth (parameter M, parameter N). The CoM-III model and predictive software: a) detect different growth periods of primary tumor and distant metastases in patients with lymph nodes MTS; b) make forecast of the period of the distant metastases appearance in patients with lymph nodes MTS; c) have higher average prediction accuracy than the other tools; d) can improve forecasts on survival of breast cancer and facilitate optimisation of diagnostic tests. The CoM-III enables us, for the first time, to predict the it whole natural history of PT and secondary distant MTS growth of patients with/without lymph nodes MTS on each stage relying only on PT sizes.
本文致力于建立乳腺癌进展和分期的数学模型。“淋巴结MTS (III期)患者原发性肿瘤(PT)和继发性远处转移(MTS)的综合数学生长模型”(CoM-III)是一种新的研究工具。CoM-III基于指数肿瘤生长模型,由确定的非线性和线性方程组组成。CoM-III模型正确描述了原发肿瘤生长(参数T)和远处转移瘤生长(参数M、参数N)。CoM-III模型及预测软件:a)检测淋巴结MTS患者原发肿瘤和远处转移瘤的不同生长时期;b)预测淋巴结MTS患者远处转移出现的时间;C)平均预测精度高于其他工具;D)可以改善对乳腺癌生存的预测,并促进诊断测试的优化。CoM-III使我们第一次能够仅依靠淋巴结大小预测每个阶段有/无淋巴结MTS患者的PT和继发远处MTS生长的完整自然史。
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引用次数: 2
Discovering Potential Effects of Dietary Supplements from Twitter Data 从Twitter数据中发现膳食补充剂的潜在影响
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079467
Keyuan Jiang
The U.S. Food and Drug Administration uses the Center for Food Safety and Applied Nutrition (CFSAN) Adverse Event Reporting System (CAERS) as the primary tool for identifying new and emerging dietary supplement adverse events. Despite mandatory and voluntary reporting of dietary supplement adverse events to CAERS, many continue to go unreported. Availability of social media has enabled dietary supplement consumers to freely share their concerns and experiences online. Such consumer generated information can be a useful source to further monitor the safety of dietary supplements. To study the usefulness of social media (Twitter in particular) for safety surveillance of dietary supplements, we developed a computational processing pipeline: 1) machine learning based identification of potential Twitter posts (tweets) of personal experiences related to the use of dietary supplements, 2) detection of potential supplement events from these tweets using the medpie open source tool, and 3) mapping detected events to effects through the taxonomy provided in SNOMED CT. Using our pipeline, we identified, from a group of 1,244,661 tweets collected, a total of 17,346 personal experience tweets pertaining to 4 dietary supplements. A total of 191 effects were mapped to SNOMED CT and we discovered that 48 of the 191 effects are not listed in either of the two online sources we referenced. However, the effects discovered from the social media data will need to be verified and confirmed with other sources and/or clinical evidences.
美国食品和药物管理局使用食品安全和应用营养中心(CFSAN)不良事件报告系统(CAERS)作为识别新的和正在出现的膳食补充剂不良事件的主要工具。尽管强制性和自愿报告膳食补充剂的不良事件CAERS,许多继续没有报告。社交媒体的可用性使得膳食补充剂消费者可以在网上自由地分享他们的担忧和经验。这些消费者提供的信息可以成为进一步监测膳食补充剂安全性的有用来源。为了研究社交媒体(特别是Twitter)对膳食补充剂安全监测的有用性,我们开发了一个计算处理管道:1)基于机器学习的识别与使用膳食补充剂相关的潜在Twitter帖子(推文),2)使用medpie开源工具从这些推文中检测潜在的补充剂事件,3)通过SNOMED CT提供的分类将检测到的事件映射到效果。使用我们的管道,我们从收集的1,244,661条推文中确定了总共17,346条与4种膳食补充剂有关的个人体验推文。总共有191种效果被映射到SNOMED CT,我们发现这191种效果中有48种没有在我们引用的两个在线资源中列出。然而,从社交媒体数据中发现的效果需要通过其他来源和/或临床证据进行验证和确认。
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引用次数: 8
A Regularization Approach for Identifying Cumulative Lagged Effects in Smart Health Applications 识别智能健康应用中累积滞后效应的正则化方法
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079503
Karthik Srinivasan, Faiz Currim, S. Ram, M. Mehl, Casey Lindberg, Esther Sternberg, Perry Skeath, Davida Herzl, Reuben Herzl, M. Lunden, Nicole Goebel, Scott Andrews, B. Najafi, J. Razjouyan, Hyo-Ki Lee, Brian Gilligan, J. Heerwagen, Kevin Kampschroer, Kelli Canada
Recent development of wearable sensor technologies have made it possible to capture concurrent data streams for ambient environment and instantaneous physiological stress response at a fine granularity. Characterizing the delay in physiological stress response time to each environment stimulus is as important as capturing the magnitude of the effect. In this paper, we discuss and evaluate a new regularization-based statistical method to determine the ideal lagged effect of five environmental factors-carbon dioxide, temperature, relative humidity, atmospheric pressure and noise levels on instantaneous stress response. Using this method, we infer that the first four environment variables have a cumulative lagged effect, of approximately 60 minutes, on stress response whereas noise level has an instantaneous effect on stress response. The proposed transformations to inputs result in models with better fit and predictive performance. This study not only informs the field of environment-wellbeing research about the cumulative lagged effects of the specified environmental factors, but also proposes a new method for determining optimal feature transformation in similar smart health studies.
近年来,可穿戴传感器技术的发展使得以精细粒度捕获环境环境和瞬时生理应激反应的并发数据流成为可能。表征生理应激反应时间对每个环境刺激的延迟与捕获效应的大小同样重要。在本文中,我们讨论并评估了一种新的基于正则化的统计方法,以确定五种环境因素-二氧化碳,温度,相对湿度,大气压力和噪声水平对瞬时应力响应的理想滞后效应。使用这种方法,我们推断前四个环境变量对应力响应有一个累积滞后效应,大约60分钟,而噪声水平对应力响应有一个瞬时的影响。所提出的输入转换导致模型具有更好的拟合和预测性能。该研究不仅为环境健康研究领域提供了特定环境因素的累积滞后效应,而且为同类智能健康研究中确定最优特征转换提供了一种新的方法。
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引用次数: 1
Using Machine Learning for Automatic Identification of Evidence-Based Health Information on the Web 利用机器学习自动识别网络上基于证据的健康信息
Pub Date : 2017-07-02 DOI: 10.1145/3079452.3079470
Majed M. Al-Jefri, R. Evans, Pietro Ghezzi, Gulden Uchyigit
Automatic assessment of the quality of online health information is a need especially with the massive growth of online content. In this paper, we present an approach to assessing the quality of health webpages based on their content rather than on purely technical features, by applying machine learning techniques to the automatic identification of evidence-based health information. Several machine learning approaches were applied to learn classifiers using different combinations of features. Three datasets were used in this study for three different diseases, namely shingles, flu and migraine. The results obtained using the classifiers were promising in terms of precision and recall especially with diseases with few different pathogenic mechanisms.
自动评估在线健康信息的质量是一种需要,特别是随着在线内容的大量增长。在本文中,我们提出了一种方法,通过将机器学习技术应用于基于证据的健康信息的自动识别,基于健康网页的内容而不是纯粹的技术特征来评估健康网页的质量。应用了几种机器学习方法来使用不同的特征组合来学习分类器。在这项研究中,三个数据集用于三种不同的疾病,即带状疱疹、流感和偏头痛。使用分类器获得的结果在准确率和召回率方面都很有希望,特别是在几种不同致病机制的疾病中。
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引用次数: 8
期刊
Proceedings of the 2017 International Conference on Digital Health
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