Enabling FAIR research in Earth Science through research objects

Data-intensive science communities are progressively adopting FAIR practices that enhance the visibility of scientific breakthroughs and enable reuse. At the core of this movement, research objects contain and describe scientific information and resources in a way compliant with the FAIR principles and sustain the development of key infrastructure and tools. This paper provides an account of the challenges, experiences and solutions involved in the adoption of FAIR around research objects over several Earth Science disciplines. During this journey, our work has been comprehensive, with outcomes including: an extended research object model adapted to the needs of earth scientists; the provisioning of digital object identifiers (DOI) to enable persistent identification and to give due credit to authors; the generation of content-based, semantically rich, research object metadata through natural language processing, enhancing visibility and reuse through recommendation systems and third-party search engines; and various types of checklists that provide a compact representation of research object quality as a key enabler of scientific reuse. All these results have been integrated in ROHub, a platform that provides research object management functionality to a wealth of applications and interfaces across different scientific communities. To monitor and quantify the community uptake of research objects, we have defined indicators and obtained measures via ROHub that are also discussed herein.Published550-5645IT. Osservazioni satellitariJCR Journa

EVER-EST: the platform allowing scientists to cross-fertilize and cross-validate data

Over recent decades large amounts of data about our Planet have become available. If this information could be easily discoverable, accessible and properly exploited, preserved and shared, it would potentially represent a wealth of information for a whole spectrum of stakeholders: from scientists and researchers to the highest level of decision and policy makers. By creating a Virtual Research Environment (VRE) tailored to the needs of Earth Science (ES) communities, the EVER-EST (http://ever-est.eu) project provides a range of both generic and domain specific data analysis and management services to support a dynamic approach to collaborative research. EVER-EST provides the means to overcome existing barriers to sharing of Earth Science data and information allowing research teams to discover, access, share and process heterogeneous data, algorithms, results and experiences within and across their communities, including those domains beyond Earth Science. EVER-EST is funded by the European Commission H2020 programme for three years starting in October 2015. The project is led by the European Space Agency (ESA) and involves some of the major European Earth Science data providers/users including NERC, DLR, INGV, CNR and SatCEN . The paper presents specific aspects of this collaboration platform in terms of infrastructure and implemented paradigms. Some case studies on cross-fertilization analysis are documented in order to show the process for creating knowledge and new data starting from collected data from different sources (e.g. from remote and social sensing). The paper concludes with few future outcomes

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Abstract Introduction Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers