SMART: An Application Framework for Real Time Big Data Analysis on Heterogeneous Cloud Environments

International audienceThe amount of data that human activities generate poses a challenge to current computer systems. Big data processing techniques are evolving to address this challenge, with analysis increasingly being performed using cloud-based systems. Emerging services, however, require additional enhancements in order to ensure their applicability to highly dynamic and heterogeneous environments and facilitate their use by Small & Medium-sized Enterprises (SMEs). Observing this landscape in emerging computing system development, this work presents Small & Medium-sized Enterprise Data Analytic in Real Time (SMART) for addressing some of the issues in providing compute service solutions for SMEs. SMART offers a framework for efficient development of Big Data analysis services suitable to small and medium-sized organizations, considering very heterogeneous data sources, from wireless sensor networks to data warehouses, focusing on service composability for a number of domains. This paper presents the basis of this proposal and preliminary results on exploring application deployment on hybrid infrastructure

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

The Societal Impact Methodology – Connecting Citizens, Sustainability Awareness, Technological Interventions &amp; Co-creative City Visions

Sustainability needs professionals and methodologies that can bring the architecturally qualitative and scientifically quantitative together to reveal the latent potential of our cities and people. These experts must have the necessary communication skills, personalities and backgrounds to firmly place city stakeholders at the heart of this local and global challenge. This approach, developed during the City-zen Project ‘Roadshow’ (a European Union FP7 funded initiative to develop and demonstrate Zero Energy Cities), began life as a powerful but over simplistic idea. It has since developed into a realizable, mobile, intense, creative, amenable and proven approach that supports cities in their efforts toward carbon descent. The methodology continues to evolve ‘city-by-city‘ by embracing diverse climates, cultures, economies, existing urban morphologies and building typologies. It has been successfully applied in Amsterdam, Belfast, Izmir, Dubrovnik and Menorca. Upcoming destinations will be Sevilla (Spain), Roeselare (Belgium) and Klaipeda (Lithuania). A team of internationally recognized experts in sustainable urbanism &amp; architecture, carbon accounting, energy potential mapping and advanced technologies travel with the City-zen Roadshow to facilitate this approach. This paper will describe the Societal Impact Methodology with reference to previous outcomes, activities, experiences and a detailed explanation of two mutually dependent and inspirational parallel workshops