Experimental Evaluation of the Real-Time Performance of Publish-Subscribe Middlewares

REACTION 2013. 2nd International Workshop on Real-time and distributed computing in emerging applications. December 3rd, 2013, Vancouver, Canada.The integration of the complex network of modules composing a modern distributed embedded systems calls for a middleware solution striking a good tradeoff between conflicting needs such as: modularity, architecture independence, re-use, easy access to the limited hardware resources and ability to respect real–time constraints. Several middleware architectures proposed in the last years offer reliable and easy to use abstractions and intuitive publish-subscribe mechanism that can simplify system development to a good degree. However, a complete compliance with the different requirements of assistive robotics application (first and foremost real–time constraints) remains to be investigated. This paper evaluates the performance of these solutions in terms of latency and scalability

Connected Car: technologies, issues, future trends

The connected car -a vehicle capable of accessing to the Internet, of communicating with smart devices as well as other cars and road infrastructures, and of collecting real-time data from multiple sources- is likely to play a fundamental role in the foreseeable Internet Of Things. In a context ruled by very strong competitive forces, a significant amount of car manufacturers and software and hardware developers have already embraced the challenge of providing innovative solutions for new generation vehicles. Today’s cars are asked to relieve drivers from the most stressful operations needed for driving, providing them with interesting and updated entertainment functions. In the meantime, they have to comply to the increasingly stringent standards about safety and reliability. The aim of this paper is to provide an overview of the possibilities offered by connected functionalities on cars and the associated technological issues and problems, as well as to enumerate the currently available hardware and software solutions and their main features

Mobile collaborative working environment of product design

In response to the arrival of new Web/Internet environments, one of the most attractive challenges in current research is to exploit wireless computing technologies in collaborative product design, and hence to build a ubiquitous mobile information system to enable the collaborative product design within a mobile environment. However, the literature review reveals that although the progress of mobile technologies on wireless networks has largely changed the way people access the Internet; little has been achieved in mobile computing for collaborative product design. The reason is that, due to the distinct features of mobile devices and wireless networks (such as small display screen, limited bandwidth, unreliability of wireless networks, etc.), the methodologies and technologies used in stationary networks are not always applicable to mobile systems. The aim of this research is to establish a Wireless Internet-based Collaborative Working Environment for product design through the combination of multiple technologies, by including: Web services, Parametric Design, the Semantic Web, Agent and Flex Technologies. In order to create, deploy, and manage the distributed resources, Web service is used to implement design resource integration in a platform-independent manner. In addition, Semantic Web Technology is used to create a general knowledge base. This approach includes two components: (1) ontology is used to represent abstract views of product data and (2) added semantic rules are also used to represent relationships among product data. Therefore, an ontology-based description model is thus proposed to facilitate expression and organisation of product information in order to manage and deploy the distributed design resources

Electronic Teacher Portfolio

The purpose of this research project is to determine the value of using an electronic teacher portfolio to document instructional methods and strategies. Research suggested the possible use of electronic portfolios by teachers to compile genuine representations of their personal style, creativity, and methodology. As models of electronic teacher portfolios were limited, we created a template using HyperStudio 4.0 and an accompanying guidebook, so teachers could easily create a personalized electronic teacher portfolio. To evaluate the guidebook\u27s ease of use, we disseminated the materials to one technologically experienced teacher and one with basic computer knowledge. While creating their own electronic portfolio using our template and guidebook, they made written notations on the user-friendly nature of the design model which were discussed at the end of the testing process. After careful analysis, changes to wording in several areas of the guidebook were made to refine directions and make the guidebook more understandable and easy to use. We concluded that there were limitations inherent in the HyperStudio authoring tool, which precluded easy insertion of crisp, clear graphic images and video clips

Open source software ecosystems : a systematic mapping

Context: Open source software (OSS) and software ecosystems (SECOs) are two consolidated research areas in software engineering. OSS influences the way organizations develop, acquire, use and commercialize software. SECOs have emerged as a paradigm to understand dynamics and heterogeneity in collaborative software development. For this reason, SECOs appear as a valid instrument to analyze OSS systems. However, there are few studies that blend both topics together. Objective: The purpose of this study is to evaluate the current state of the art in OSS ecosystems (OSSECOs) research, specifically: (a) what the most relevant definitions related to OSSECOs are; (b) what the particularities of this type of SECO are; and (c) how the knowledge about OSSECO is represented. Method: We conducted a systematic mapping following recommended practices. We applied automatic and manual searches on different sources and used a rigorous method to elicit the keywords from the research questions and selection criteria to retrieve the final papers. As a result, 82 papers were selected and evaluated. Threats to validity were identified and mitigated whenever possible. Results: The analysis allowed us to answer the research questions. Most notably, we did the following: (a) identified 64 terms related to the OSSECO and arranged them into a taxonomy; (b) built a genealogical tree to understand the genesis of the OSSECO term from related definitions; (c) analyzed the available definitions of SECO in the context of OSS; and (d) classified the existing modelling and analysis techniques of OSSECOs. Conclusion: As a summary of the systematic mapping, we conclude that existing research on several topics related to OSSECOs is still scarce (e.g., modelling and analysis techniques, quality models, standard definitions, etc.). This situation calls for further investigation efforts on how organizations and OSS communities actually understand OSSECOs.Peer ReviewedPostprint (author's final draft

“And all the pieces matter...” Hybrid Testing Methods for Android App's Privacy Analysis

Smartphones have become inherent to the every day life of billions of people worldwide, and they are used to perform activities such as gaming, interacting with our peers or working. While extremely useful, smartphone apps also have drawbacks, as they can affect the security and privacy of users. Android devices hold a lot of personal data from users, including their social circles (e.g., contacts), usage patterns (e.g., app usage and visited websites) and their physical location. Like in most software products, Android apps often include third-party code (Software Development Kits or SDKs) to include functionality in the app without the need to develop it in-house. Android apps and third-party components embedded in them are often interested in accessing such data, as the online ecosystem is dominated by data-driven business models and revenue streams like advertising. The research community has developed many methods and techniques for analyzing the privacy and security risks of mobile apps, mostly relying on two techniques: static code analysis and dynamic runtime analysis. Static analysis analyzes the code and other resources of an app to detect potential app behaviors. While this makes static analysis easier to scale, it has other drawbacks such as missing app behaviors when developers obfuscate the app’s code to avoid scrutiny. Furthermore, since static analysis only shows potential app behavior, this needs to be confirmed as it can also report false positives due to dead or legacy code. Dynamic analysis analyzes the apps at runtime to provide actual evidence of their behavior. However, these techniques are harder to scale as they need to be run on an instrumented device to collect runtime data. Similarly, there is a need to stimulate the app, simulating real inputs to examine as many code-paths as possible. While there are some automatic techniques to generate synthetic inputs, they have been shown to be insufficient. In this thesis, we explore the benefits of combining static and dynamic analysis techniques to complement each other and reduce their limitations. While most previous work has often relied on using these techniques in isolation, we combine their strengths in different and novel ways that allow us to further study different privacy issues on the Android ecosystem. Namely, we demonstrate the potential of combining these complementary methods to study three inter-related issues: • A regulatory analysis of parental control apps. We use a novel methodology that relies on easy-to-scale static analysis techniques to pin-point potential privacy issues and violations of current legislation by Android apps and their embedded SDKs. We rely on the results from our static analysis to inform the way in which we manually exercise the apps, maximizing our ability to obtain real evidence of these misbehaviors. We study 46 publicly available apps and find instances of data collection and sharing without consent and insecure network transmissions containing personal data. We also see that these apps fail to properly disclose these practices in their privacy policy. • A security analysis of the unauthorized access to permission-protected data without user consent. We use a novel technique that combines the strengths of static and dynamic analysis, by first comparing the data sent by applications at runtime with the permissions granted to each app in order to find instances of potential unauthorized access to permission protected data. Once we have discovered the apps that are accessing personal data without permission, we statically analyze their code in order to discover covert- and side-channels used by apps and SDKs to circumvent the permission system. This methodology allows us to discover apps using the MAC address as a surrogate for location data, two SDKs using the external storage as a covert-channel to share unique identifiers and an app using picture metadata to gain unauthorized access to location data. • A novel SDK detection methodology that relies on obtaining signals observed both in the app’s code and static resources and during its runtime behavior. Then, we rely on a tree structure together with a confidence based system to accurately detect SDK presence without the need of any a priory knowledge and with the ability to discern whether a given SDK is part of legacy or dead code. We prove that this novel methodology can discover third-party SDKs with more accuracy than state-of-the-art tools both on a set of purpose-built ground-truth apps and on a dataset of 5k publicly available apps. With these three case studies, we are able to highlight the benefits of combining static and dynamic analysis techniques for the study of the privacy and security guarantees and risks of Android apps and third-party SDKs. The use of these techniques in isolation would not have allowed us to deeply investigate these privacy issues, as we would lack the ability to provide real evidence of potential breaches of legislation, to pin-point the specific way in which apps are leveraging cover and side channels to break Android’s permission system or we would be unable to adapt to an ever-changing ecosystem of Android third-party companies.The works presented in this thesis were partially funded within the framework of the following projects and grants: • European Union’s Horizon 2020 Innovation Action program (Grant Agreement No. 786741, SMOOTH Project and Grant Agreement No. 101021377, TRUST AWARE Project). • Spanish Government ODIO NºPID2019-111429RB-C21/PID2019-111429RBC22. • The Spanish Data Protection Agency (AEPD) • AppCensus Inc.This work has been supported by IMDEA Networks InstitutePrograma de Doctorado en Ingeniería Telemática por la Universidad Carlos III de MadridPresidente: Srdjan Matic.- Secretario: Guillermo Suárez-Tangil.- Vocal: Ben Stoc

An approach to pervasive monitoring in dynamic learning contexts : data sensing, communication support and awareness provision

It is within the capabilities of current technology to support the emerging learning paradigms. These paradigms suggest that today’s learning activities and environments are pervas ive and require a higher level of dynamism than the traditional learning contexts. Therefore, we have to rethink our approach to learning and use technology not only as a digital information support, but also as an instrument to reinforce knowledge, foster collaboration, promote creativity and provide richer learning experiences. Particularly, this thesis was motivated by the rapidly growing number of smartphone users and the fact that these devices are increasingly becoming more and more resource-rich, in terms of their communication and sensing technologies, display capabilities battery autonomy, etc. Hence, this dissertation benefits from the ubiquity and development of mobile technology, aiming to bridge the gap between the challenges posed by modern learning requirements and the capabilities of current technology. The sensors embedded in smartphones can be used to capture diverse behavioural and social aspects of the users. For example, using microphone and Bluetooth is possible to identify conversation patterns, discover users in proximity and detect face-to-face meetings. This fact opens up exciting possibilities to monitor the behaviour of the user and to provide meaningful feedback. This feedback offers useful information that can help people be aware of and reflect on their behaviour and its effects, and take the necessary actions to improve them. Consequently, we propose a pervasive monitoring system that take advantage of the capabilities of modern smartphones, us ing them to s upport the awarenes s provis ion about as pects of the activities that take place in today’s pervas ive learning environments. This pervasive monitoring system provides (i) an autonomous sensing platform to capture complex information about processes and interactions that take place across multiple learning environments, (ii) an on-demand and s elf-m anaged communication infras tructure, and (ii) a dis play facility to provide “awarenes s inform ation” to the s tudents and/or lecturers. For the proposed system, we followed a research approach that have three main components. First, the description of a generalized framework for pervasive sensing that enables collaborative sensing interactions between smartphones and other types of devices. By allowing complex data capture interactions with diverse remote sensors, devices and data sources, this framework allows to improve the information quality while saving energy in the local device. Second, the evaluation, through a real-world deployment, of the suitability of ad hoc networks to support the diverse communication processes required for pervasive monitoring. This component also includes a method to improve the scalability and reduce the costs of these networks. Third, the design of two awareness mechanisms to allow flexible provision of information in dynamic and heterogeneous learning contexts. These mechanisms rely on the use of smartphones as adaptable devices that can be used directly as awareness displays or as communication bridges to enable interaction with other remote displays available in the environment. Diverse aspects of the proposed system were evaluated through a number of simulations, real-world experiments, user studies and prototype evaluations. The experimental evaluation of the data capture and communication aspects of the system provided empirical evidence of the usefulness and suitability of the proposed approach to support the development of pervasive monitoring solutions. In addition, the proof-of-concept deployments of the proposed awareness mechanisms, performed in both laboratory and real-world learning environments, provided quantitative and qualitative indicators that such mechanisms improve the quality of the awareness information and the user experienceLa tecnología moderna tiene capacidad de dar apoyo a los paradigmas de aprendizaje emergentes. Estos paradigmas sugieren que las actividades de aprendizaje actuales, caracterizadas por la ubicuidad de entornos, son más dinámicas y complejas que los contextos de aprendizaje tradicionales. Por tanto, tenemos que reformular nuestro acercamiento al aprendizaje, consiguiendo que la tecnología sirva no solo como mero soporte de información, sino como medio para reforzar el conocimiento, fomentar la colaboración, estimular la creatividad y proporcionar experiencias de aprendizaje enriquecedoras. Esta tesis doctoral está motivada por el vertiginoso crecimiento de usuarios de smartphones y el hecho de que estos son cada vez más potentes en cuanto a tecnologías de comunicación, sensores, displays, autonomía energética, etc. Por tanto, esta tesis aprovecha la ubicuidad y el desarrollo de esta tecnología, con el objetivo de reducir la brecha entre los desafíos del aprendizaje moderno y las capacidades de la tecnología actual. Los sensores integrados en los smartphones pueden ser utilizados para reconocer diversos aspectos del comportamiento individual y social de los usuarios. Por ejemplo, a través del micrófono y el Bluetooth, es posible determinar patrones de conversación, encontrar usuarios cercanos y detectar reuniones presenciales. Este hecho abre un interesante abanico de posibilidades, pudiendo monitorizar aspectos del comportamiento del usuario y proveer un feedback significativo. Dicho feedback, puede ayudar a los usuarios a reflexionar sobre su comportamiento y los efectos que provoca, con el fin de tomar medidas necesarias para mejorarlo. Proponemos un sistema de monitorización generalizado que aproveche las capacidades de los smartphones para proporcionar información a los usuarios, ayudándolos a percibir y tomar conciencia sobre diversos aspectos de las actividades que se desarrollan en contextos de aprendizaje modernos. Este sistema ofrece: (i) una plataforma de detección autónoma, que captura información compleja sobre los procesos e interacciones de aprendizaje; (ii) una infraestructura de comunicación autogestionable y; (iii) un servicio de visualización que provee “información de percepción” a estudiantes y/o profesores. Para la elaboración de este sistema nos hemos centrado en tres áreas de investigación. Primero, la descripción de una infraestructura de detección generalizada, que facilita interacciones entre smartphones y otros dispositivos. Al permitir interacciones complejas para la captura de datos entre diversos sensores, dispositivos y fuentes de datos remotos, esta infraestructura consigue mejorar la calidad de la información y ahorrar energía en el dispositivo local. Segundo, la evaluación, a través de pruebas reales, de la idoneidad de las redes ad hoc como apoyo de los diversos procesos de comunicación requeridos en la monitorización generalizada. Este área incluye un método que incrementa la escalabilidad y reduce el coste de estas redes. Tercero, el diseño de dos mecanismos de percepción que permiten la provisión flexible de información en contextos de aprendizaje dinámicos y heterogéneos. Estos mecanismos descansan en la versatilidad de los smartphones, que pueden ser utilizados directamente como displays de percepción o como puentes de comunicación que habilitan la interacción con otros displays remotos del entorno. Diferentes aspectos del sistema propuesto han sido evaluados a través de simulaciones, experimentos reales, estudios de usuarios y evaluaciones de prototipos. La evaluación experimental proporcionó evidencia empírica de la idoneidad del sistema para apoyar el desarrollo de soluciones de monitorización generalizadas. Además, las pruebas de concepto realizadas tanto en entornos de aprendizajes reales como en el laboratorio, aportaron indicadores cuantitativos y cualitativos de que estos mecanismos mejoran la calidad de la información de percepción y la experiencia del usuario.Postprint (published version

GVSU Undergraduate and Graduate Catalog, 2016-2017

Grand Valley State University 2016-2017 undergraduate and/or graduate course catalog published annually to provide students with information and guidance for enrollment.https://scholarworks.gvsu.edu/course_catalogs/1091/thumbnail.jp

GVSU Undergraduate and Graduate Catalog, 2016-2017

Grand Valley State University 2016-2017 undergraduate and/or graduate course catalog published annually to provide students with information and guidance for enrollment.https://scholarworks.gvsu.edu/course_catalogs/1091/thumbnail.jp

Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

: O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s disease Z. Hu, P. Wang, Y. Zhu, J. Zhao, M. Xiong, David A Bennett O11 A microRNA signature identifies subtypes of triple-negative breast cancer and reveals MIR-342-3P as regulator of a lactate metabolic pathway A. Hidalgo-Miranda, S. Romero-Cordoba, S. Rodriguez-Cuevas, R. Rebollar-Vega, E. Tagliabue, M. Iorio, E. D’Ippolito, S. Baroni O12 Transcriptome analysis identifies genes, enhancer RNAs and repetitive elements that are recurrently deregulated across multiple cancer types B. Kaczkowski, Y. Tanaka, H. Kawaji, A. Sandelin, R. Andersson, M. Itoh, T. Lassmann, the FANTOM5 consortium, Y. Hayashizaki, P. Carninci, A. R. R. Forrest O13 Elevated mutation and widespread loss of constraint at regulatory and architectural binding sites across 11 tumour types C. A. Semple O14 Exome sequencing provides evidence of pathogenicity for genes implicated in colorectal cancer E. A. Rosenthal, B. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, A. Burt, P. Robertson, P. Beyers, C. Nefcy, D. Veenstra, F. Hisama, R. Bennett, M. Dorschner, D. Nickerson, J. Smith, K. Patterson, D. Crosslin, R. Nassir, N. Zubair, T. Harrison, U. Peters, G. Jarvik, NHLBI GO Exome Sequencing Project O15 The tandem duplicator phenotype as a distinct genomic configuration in cancer F. Menghi, K. Inaki, X. Woo, P. Kumar, K. Grzeda, A. Malhotra, H. Kim, D. Ucar, P. Shreckengast, K. Karuturi, J. Keck, J. Chuang, E. T. Liu O16 Modeling genetic interactions associated with molecular subtypes of breast cancer B. Ji, A. Tyler, G. Ananda, G. Carter O17 Recurrent somatic mutation in the MYC associated factor X in brain tumors H. Nikbakht, M. Montagne, M. Zeinieh, A. Harutyunyan, M. Mcconechy, N. Jabado, P. Lavigne, J. Majewski O18 Predictive biomarkers to metastatic pancreatic cancer treatment J. B. Goldstein, M. Overman, G. Varadhachary, R. Shroff, R. Wolff, M. Javle, A. Futreal, D. Fogelman O19 DDIT4 gene expression as a prognostic marker in several malignant tumors L. Bravo, W. Fajardo, H. Gomez, C. Castaneda, C. Rolfo, J. A. Pinto O20 Spatial organization of the genome and genomic alterations in human cancers K. C. Akdemir, L. Chin, A. Futreal, ICGC PCAWG Structural Alterations Group O21 Landscape of targeted therapies in solid tumors S. Patterson, C. Statz, S. Mockus O22 Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma S. N. Nikolaev, X. I. Bonilla, L. Parmentier, B. King, F. Bezrukov, G. Kaya, V. Zoete, V. Seplyarskiy, H. Sharpe, T. McKee, A. Letourneau, P. Ribaux, K. Popadin, N. Basset-Seguin, R. Ben Chaabene, F. Santoni, M. Andrianova, M. Guipponi, M. Garieri, C. Verdan, K. Grosdemange, O. Sumara, M. Eilers, I. Aifantis, O. Michielin, F. de Sauvage, S. Antonarakis O23 Identification of differential biomarkers of hepatocellular carcinoma and cholangiocarcinoma via transcriptome microarray meta-analysis S. Likhitrattanapisal O24 Clinical validity and actionability of multigene tests for hereditary cancers in a large multi-center study S. Lincoln, A. Kurian, A. Desmond, S. Yang, Y. Kobayashi, J. Ford, L. Ellisen O25 Correlation with tumor ploidy status is essential for correct determination of genome-wide copy number changes by SNP array T. L. Peters, K. R. Alvarez, E. F. Hollingsworth, D. H. Lopez-Terrada O26 Nanochannel based next-generation mapping for interrogation of clinically relevant structural variation A. Hastie, Z. Dzakula, A. W. Pang, E. T. Lam, T. Anantharaman, M. Saghbini, H. Cao, BioNano Genomics O27 Mutation spectrum in a pulmonary arterial hypertension (PAH) cohort and identification of associated truncating mutations in TBX4 C. Gonzaga-Jauregui, L. Ma, A. King, E. Berman Rosenzweig, U. Krishnan, J. G. Reid, J. D. Overton, F. Dewey, W. K. Chung O28 NORTH CAROLINA macular dystrophy (MCDR1): mutations found affecting PRDM13 K. Small, A. DeLuca, F. Cremers, R. A. Lewis, V. Puech, B. Bakall, R. Silva-Garcia, K. Rohrschneider, M. Leys, F. S. Shaya, E. Stone O29 PhenoDB and genematcher, solving unsolved whole exome sequencing data N. L. Sobreira, F. Schiettecatte, H. Ling, E. Pugh, D. Witmer, K. Hetrick, P. Zhang, K. Doheny, D. Valle, A. Hamosh O30 Baylor-Johns Hopkins Center for Mendelian genomics: a four year review S. N. Jhangiani, Z. Coban Akdemir, M. N. Bainbridge, W. Charng, W. Wiszniewski, T. Gambin, E. Karaca, Y. Bayram, M. K. Eldomery, J. Posey, H. Doddapaneni, J. Hu, V. R. Sutton, D. M. Muzny, E. A. Boerwinkle, D. Valle, J. R. Lupski, R. A. Gibbs O31 Using read overlap assembly to accurately identify structural genetic differences in an ashkenazi jewish trio S. Shekar, W. Salerno, A. English, A. Mangubat, J. Bruestle O32 Legal interoperability: a sine qua non for international data sharing A. Thorogood, B. M. Knoppers, Global Alliance for Genomics and Health - Regulatory and Ethics Working Group O33 High throughput screening platform of competent sineups: that can enhance translation activities of therapeutic target H. Takahashi, K. R. Nitta, A. Kozhuharova, A. M. Suzuki, H. Sharma, D. Cotella, C. Santoro, S. Zucchelli, S. Gustincich, P. Carninci O34 The undiagnosed diseases network international (UDNI): clinical and laboratory research to meet patient needs J. J. Mulvihill, G. Baynam, W. Gahl, S. C. Groft, K. Kosaki, P. Lasko, B. Melegh, D. Taruscio O36 Performance of computational algorithms in pathogenicity predictions for activating variants in oncogenes versus loss of function mutations in tumor suppressor genes R. Ghosh, S. Plon O37 Identification and electronic health record incorporation of clinically actionable pharmacogenomic variants using prospective targeted sequencing S. Scherer, X. Qin, R. Sanghvi, K. Walker, T. Chiang, D. Muzny, L. Wang, J. Black, E. Boerwinkle, R. Weinshilboum, R. Gibbs O38 Melanoma reprogramming state correlates with response to CTLA-4 blockade in metastatic melanoma T. Karpinets, T. Calderone, K. Wani, X. Yu, C. Creasy, C. Haymaker, M. Forget, V. Nanda, J. Roszik, J. Wargo, L. Haydu, X. Song, A. Lazar, J. Gershenwald, M. Davies, C. Bernatchez, J. Zhang, A. Futreal, S. Woodman O39 Data-driven refinement of complex disease classification from integration of heterogeneous functional genomics data in GeneWeaver E. J. Chesler, T. Reynolds, J. A. Bubier, C. Phillips, M. A. Langston, E. J. Baker O40 A general statistic framework for genome-based disease risk prediction M. Xiong, L. Ma, N. Lin, C. Amos O41 Integrative large-scale causal network analysis of imaging and genomic data and its application in schizophrenia studies N. Lin, P. Wang, Y. Zhu, J. Zhao, V. Calhoun, M. Xiong O42 Big data and NGS data analysis: the cloud to the rescue O. Dobretsberger, M. Egger, F. Leimgruber O43 Cpipe: a convergent clinical exome pipeline specialised for targeted sequencing S. Sadedin, A. Oshlack, Melbourne Genomics Health Alliance O44 A Bayesian classification of biomedical images using feature extraction from deep neural networks implemented on lung cancer data V. A. A. Antonio, N. Ono, Clark Kendrick C. Go O45 MAV-SEQ: an interactive platform for the Management, Analysis, and Visualization of sequence data Z. Ahmed, M. Bolisetty, S. Zeeshan, E. Anguiano, D. Ucar O47 Allele specific enhancer in EPAS1 intronic regions may contribute to high altitude adaptation of Tibetans C. Zeng, J. Shao O48 Nanochannel based next-generation mapping for structural variation detection and comparison in trios and populations H. Cao, A. Hastie, A. W. Pang, E. T. Lam, T. Liang, K. Pham, M. Saghbini, Z. Dzakula O49 Archaic introgression in indigenous populations of Malaysia revealed by whole genome sequencing Y. Chee-Wei, L. Dongsheng, W. Lai-Ping, D. Lian, R. O. Twee Hee, Y. Yunus, F. Aghakhanian, S. S. Mokhtar, C. V. Lok-Yung, J. Bhak, M. Phipps, X. Shuhua, T. Yik-Ying, V. Kumar, H. Boon-Peng O50 Breast and ovarian cancer prevention: is it time for population-based mutation screening of high risk genes? I. Campbell, M.-A. Young, P. James, Lifepool O53 Comprehensive coverage from low DNA input using novel NGS library preparation methods for WGS and WGBS C. Schumacher, S. Sandhu, T. Harkins, V. Makarov O54 Methods for large scale construction of robust PCR-free libraries for sequencing on Illumina HiSeqX platform H. DoddapaneniR. Glenn, Z. Momin, B. Dilrukshi, H. Chao, Q. Meng, B. Gudenkauf, R. Kshitij, J. Jayaseelan, C. Nessner, S. Lee, K. Blankenberg, L. Lewis, J. Hu, Y. Han, H. Dinh, S. Jireh, K. Walker, E. Boerwinkle, D. Muzny, R. Gibbs O55 Rapid capture methods for clinical sequencing J. Hu, K. Walker, C. Buhay, X. Liu, Q. Wang, R. Sanghvi, H. Doddapaneni, Y. Ding, N. Veeraraghavan, Y. Yang, E. Boerwinkle, A. L. Beaudet, C. M. Eng, D. M. Muzny, R. A. Gibbs O56 A diploid personal human genome model for better genomes from diverse sequence data K. C. C. Worley, Y. Liu, D. S. T. Hughes, S. C. Murali, R. A. Harris, A. C. English, X. Qin, O. A. Hampton, P. Larsen, C. Beck, Y. Han, M. Wang, H. Doddapaneni, C. L. Kovar, W. J. Salerno, A. Yoder, S. Richards, J. Rogers, J. R. Lupski, D. M. Muzny, R. A. Gibbs O57 Development of PacBio long range capture for detection of pathogenic structural variants Q. Meng, M. Bainbridge, M. Wang, H. Doddapaneni, Y. Han, D. Muzny, R. Gibbs O58 Rhesus macaques exhibit more non-synonymous variation but greater impact of purifying selection than humans R. A. Harris, M. Raveenedran, C. Xue, M. Dahdouli, L. Cox, G. Fan, B. Ferguson, J. Hovarth, Z. Johnson, S. Kanthaswamy, M. Kubisch, M. Platt, D. Smith, E. Vallender, R. Wiseman, X. Liu, J. Below, D. Muzny, R. Gibbs, F. Yu, J. Rogers O59 Assessing RNA structure disruption induced by single-nucleotide variation J. Lin, Y. Zhang, Z. Ouyang P1 A meta-analysis of genome-wide association studies of mitochondrial dna copy number A. Moore, Z. Wang, J. Hofmann, M. Purdue, R. Stolzenberg-Solomon, S. Weinstein, D. Albanes, C.-S. Liu, W.-L. Cheng, T.-T. Lin, Q. Lan, N. Rothman, S. Berndt P2 Missense polymorphic genetic combinations underlying down syndrome susceptibility E. S. Chen P4 The evaluation of alteration of ELAM-1 expression in the endometriosis patients H. Bahrami, A. Khoshzaban, S. Heidari Keshal P5 Obesity and the incidence of apolipoprotein E polymorphisms in an assorted population from Saudi Arabia population K. K. R. Alharbi P6 Genome-associated personalized antithrombotical therapy for patients with high risk of thrombosis and bleeding M. Zhalbinova, A. Akilzhanova, S. Rakhimova, M. Bekbosynova, S. Myrzakhmetova P7 Frequency of Xmn1 polymorphism among sickle cell carrier cases in UAE population M. Matar P8 Differentiating inflammatory bowel diseases by using genomic data: dimension of the problem and network organization N. Mili, R. Molinari, Y. Ma, S. Guerrier P9 Vulnerability of genetic variants to the risk of autism among Saudi children N. Elhawary, M. Tayeb, N. Bogari, N. Qotb P10 Chromatin profiles from ex vivo purified dopaminergic neurons establish a promising model to support studies of neurological function and dysfunction S. A. McClymont, P. W. Hook, L. A. Goff, A. McCallion P11 Utilization of a sensitized chemical mutagenesis screen to identify genetic modifiers of retinal dysplasia in homozygous Nr2e3rd7 mice Y. Kong, J. R. Charette, W. L. Hicks, J. K. Naggert, L. Zhao, P. M. Nishina P12 Ion torrent next generation sequencing of recessive polycystic kidney disease in Saudi patients B. M. Edrees, M. Athar, F. A. Al-Allaf, M. M. Taher, W. Khan, A. Bouazzaoui, N. A. Harbi, R. Safar, H. Al-Edressi, A. Anazi, N. Altayeb, M. A. Ahmed, K. Alansary, Z. Abduljaleel P13 Digital expression profiling of Purkinje neurons and dendrites in different subcellular compartments A. Kratz, P. Beguin, S. Poulain, M. Kaneko, C. Takahiko, A. Matsunaga, S. Kato, A. M. Suzuki, N. Bertin, T. Lassmann, R. Vigot, P. Carninci, C. Plessy, T. Launey P14 The evolution of imperfection and imperfection of evolution: the functional and functionless fractions of the human genome D. Graur P16 Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients J. Friis-Nielsen, J. M. Izarzugaza, S. Brunak P18 Discovery of active gene modules which are densely conserved across multiple cancer types reveal their prognostic power and mutually exclusive mutation patterns B. S. Soibam P19 Whole exome sequencing of dysplastic leukoplakia tissue indicates sequential accumulation of somatic mutations from oral precancer to cancer D. Das, N. Biswas, S. Das, S. Sarkar, A. Maitra, C. Panda, P. Majumder P21 Epigenetic mechanisms of carcinogensis by hereditary breast cancer genes J. J. Gruber, N. Jaeger, M. Snyder P22 RNA direct: a novel RNA enrichment strategy applied to transcripts associated with solid tumors K. Patel, S. Bowman, T. Davis, D. Kraushaar, A. Emerman, S. Russello, N. Henig, C. Hendrickson P23 RNA sequencing identifies gene mutations for neuroblastoma K. Zhang P24 Participation of SFRP1 in the modulation of TMPRSS2-ERG fusion gene in prostate cancer cell lines M. Rodriguez-Dorantes, C. D. Cruz-Hernandez, C. D. P. Garcia-Tobilla, S. Solorzano-Rosales P25 Targeted Methylation Sequencing of Prostate Cancer N. Jäger, J. Chen, R. Haile, M. Hitchins, J. D. Brooks, M. Snyder P26 Mutant TPMT alleles in children with acute lymphoblastic leukemia from México City and Yucatán, Mexico S. Jiménez-Morales, M. Ramírez, J. Nuñez, V. Bekker, Y. Leal, E. Jiménez, A. Medina, A. Hidalgo, J. Mejía P28 Genetic modifiers of Alström syndrome J. Naggert, G. B. Collin, K. DeMauro, R. Hanusek, P. M. Nishina P31 Association of genomic variants with the occurrence of angiotensin-converting-enzyme inhibitor (ACEI)-induced coughing among Filipinos E. M. Cutiongco De La Paz, R. Sy, J. Nevado, P. Reganit, L. Santos, J. D. Magno, F. E. Punzalan , D. Ona , E. Llanes, R. L. Santos-Cortes , R. Tiongco, J. Aherrera, L. Abrahan, P. Pagauitan-Alan; Philippine Cardiogenomics Study Group P32 The use of “humanized” mouse models to validate disease association of a de novo GARS variant and to test a novel gene therapy strategy for Charcot-Marie-Tooth disease type 2D K. H. Morelli, J. S. Domire, N. Pyne, S. Harper, R. Burgess P34 Molecular regulation of chondrogenic human induced pluripotent stem cells M. A. Gari, A. Dallol, H. Alsehli, A. Gari, M. Gari, A. Abuzenadah P35 Molecular profiling of hematologic malignancies: implementation of a variant assessment algorithm for next generation sequencing data analysis and clinical reporting M. Thomas, M. Sukhai, S. Garg, M. Misyura, T. Zhang, A. Schuh, T. Stockley, S. Kamel-Reid P36 Accessing genomic evidence for clinical variants at NCBI S. Sherry, C. Xiao, D. Slotta, K. Rodarmer, M. Feolo, M. Kimelman, G. Godynskiy, C. O’Sullivan, E. Yaschenko P37 NGS-SWIFT: a cloud-based variant analysis framework using control-accessed sequencing data from DBGAP/SRA C. Xiao, E. Yaschenko, S. Sherry P38 Computational assessment of drug induced hepatotoxicity through gene expression profiling C. Rangel-Escareño, H. Rueda-Zarate P40 Flowr: robust and efficient pipelines using a simple language-agnostic approach;ultraseq; fast modular pipeline for somatic variation calling using flowr S. Seth, S. Amin, X. Song, X. Mao, H. Sun, R. G. Verhaak, A. Futreal, J. Zhang P41 Applying “Big data” technologies to the rapid analysis of heterogenous large cohort data S. J. Whiite, T. Chiang, A. English, J. Farek, Z. Kahn, W. Salerno, N. Veeraraghavan, E. Boerwinkle, R. Gibbs P42 FANTOM5 web resource for the large-scale genome-wide transcription start site activity profiles of wide-range of mammalian cells T. Kasukawa, M. Lizio, J. Harshbarger, S. Hisashi, J. Severin, A. Imad, S. Sahin, T. C. Freeman, K. Baillie, A. Sandelin, P. Carninci, A. R. R. Forrest, H. Kawaji, The FANTOM Consortium P43 Rapid and scalable typing of structural variants for disease cohorts W. Salerno, A. English, S. N. Shekar, A. Mangubat, J. Bruestle, E. Boerwinkle, R. A. Gibbs P44 Polymorphism of glutathione S-transferases and sulphotransferases genes in an Arab population A. H. Salem, M. Ali, A. Ibrahim, M. Ibrahim P46 Genetic divergence of CYP3A5*3 pharmacogenomic marker for native and admixed Mexican populations J. C. Fernandez-Lopez, V. Bonifaz-Peña, C. Rangel-Escareño, A. Hidalgo-Miranda, A. V. Contreras P47 Whole exome sequence meta-analysis of 13 white blood cell, red blood cell, and platelet traits L. Polfus, CHARGE and NHLBI Exome Sequence Project Working Groups P48 Association of adipoq gene with type 2 diabetes and related phenotypes in african american men and women: The jackson heart study S. Davis, R. Xu, S. Gebeab, P Riestra, A Gaye, R. Khan, J. Wilson, A. Bidulescu P49 Common variants in casr gene are associated with serum calcium levels in koreans S. H. Jung, N. Vinayagamoorthy, S. H. Yim, Y. J. Chung P50 Inference of multiple-wave population admixture by modeling decay of linkage disequilibrium with multiple exponential functions Y. Zhou, S. Xu P51 A Bayesian framework for generalized linear mixed models in genome-wide association studies X. Wang, V. Philip, G. Carter P52 Targeted sequencing approach for the identification of the genetic causes of hereditary hearing impairment A. A. Abuzenadah, M. Gari, R. Turki, A. Dallol P53 Identification of enhancer sequences by ATAC-seq open chromatin profiling A. Uyar, A. Kaygun, S. Zaman, E. Marquez, J. George, D. Ucar P54 Direct enrichment for the rapid preparation of targeted NGS libraries C. L. Hendrickson, A. Emerman, D. Kraushaar, S. Bowman, N. Henig, T. Davis, S. Russello, K. Patel P56 Performance of the Agilent D5000 and High Sensitivity D5000 ScreenTape assays for the Agilent 4200 Tapestation System R. Nitsche, L. Prieto-Lafuente P57 ClinVar: a multi-source archive for variant interpretation M. Landrum, J. Lee, W. Rubinstein, D. Maglott P59 Association of functional variants and protein physical interactions of human MUTY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome Z. Abduljaleel, W. Khan, F. A. Al-Allaf, M. Athar , M. M. Taher, N. Shahzad P60 Modification of the microbiom constitution in the gut using chicken IgY antibodies resulted in a reduction of acute graft-versus-host disease after experimental bone marrow transplantation A. Bouazzaoui, E. Huber, A. Dan, F. A. Al-Allaf, W. Herr, G. Sprotte, J. Köstler, A. Hiergeist, A. Gessner, R. Andreesen, E. Holler P61 Compound heterozygous mutation in the LDLR gene in Saudi patients suffering severe hypercholesterolemia F. Al-Allaf, A. Alashwal, Z. Abduljaleel, M. Taher, A. Bouazzaoui, H. Abalkhail, A. Al-Allaf, R. Bamardadh, M. Atha