Genomics is a Big Data science and is going to get much bigger, very soon, but it is not known whether the needs of genomics will exceed other Big Data domains. Projecting to the year 2025, we compared genomics with three other major generators of Big Data: astronomy, YouTube, and Twitter. Our estimates show that genomics is a “four-headed beast”—it is either on par with or the most demanding of the domains analyzed here in terms of data acquisition, storage, distribution, and analysis. We discuss aspects of new technologies that will need to be developed to rise up and meet the computational challenges that genomics poses for the near future. Now is the time for concerted, community-wide planning for the “genomical” challenges of the next decade.
PERVASIVE computing 75 80 PERVASIVE computing Presentation Input sensor Coordinator Model Figure 4. Application framework infrastructure. The coordinator oversees the composition of the model, presentation, and controller components.82 PERVASIVE computing PERVASIVE computing 83 the AUTHORS Manuel Román is a PhD candidate at the University of Illinois at Urbana-Champaign. His research interests include ubiquitous computing, middleware, operating systems, and interactive and programmable active spaces. He received his BS and MS in computer science from the La Salle School of Engineering (Ramon Llull Univ.).
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases, hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth Type 2 (CMT2). In contrast, ALS associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss of function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
Abstract. Ubiquitous Computing advocates the construction of massively distributed systems that help transform physical spaces into computationally active and intelligent environments. The design of systems and applications in these environments needs to take account of heterogeneous devices, mobile users and rapidly changing contexts. Most importantly, agents in ubiquitous and mobile environments need to be context-aware so that they can adapt themselves to different situations. In this paper, we argue that ubiquitous computing environments must provide middleware support for context-awareness. We also propose a middleware that facilitates the development of context-aware agents. The middleware allows agents to acquire contextual information easily, reason about it using different logics and then adapt themselves to changing contexts. Another key issue in these environments is allowing autonomous, heterogeneous agents to have a common semantic understanding of contextual information. Our middleware tackles this problem by using ontologies to define different types of contextual information. This middleware is part of Gaia, our infrastructure for enabling Smart Spaces.
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