UK Research Information Shared Service (UKRISS) Final Report, July 2014

The reporting of research information is a complex and expensive activity for research organisations (ROs). There is little alignment between funders of the reporting requests made to institutions and requests made to individual researchers about their research outputs and outcomes. This inevitably results in duplication and increased costs across the sector, whilst limiting the potential sharing and reuse of the information. The UK Research Information Shared Service (UKRISS) project conducted a feasibility and scoping study for the reporting of research information at a national level based on CERIF (Common European Research Information Format), with the objective of increasing efficiency, productivity and quality across the sector. The aim was to define and prototype solutions which are compelling, easy to use, have a low entry barrier, and support innovative information sharing and benchmarking. CERIF has emerged as the preferred format for expressing research information across Europe. To date, CERIF has been piloted for specific applications, but not as a format for reporting requirements across all UK ROs. The final report presents the work carried out by the UKRISS project, including requirements gathering, modelling and prototyping, as well as recommendation for sustainability. UKRISS was divided into two phases. Phase 1, mapping the reporting landscape, ran from March 2012 to December 2012. Phase 2, exploring delivery of potential solutions, began in February 2013 and ended in December 2013

Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene

OBJECTIVE: Schizophrenia, the most common major psychiatric disorder (or group of disorders), entails severe decline of higher functions, principally with alterations in cognitive functioning and reality perception. Both genetic and environmental factors are involved in its pathogenesis; however, its genetic background still needs to be clarified. The objective of the study was to reveal genetic markers associated with schizophrenia in the Bulgarian population. METHODS: We have conducted a genome-wide association study using 554 496 single nucleotide polymorphisms (SNPs) in 188 affected and 376 unaffected Bulgarian individuals. Subsequently, the 100 candidate SNPs that revealed the smallest P-values were further evaluated in an additional set of 99 case and 328 control samples. RESULTS: We found a significant association between schizophrenia and the intronic SNP rs7527939 in the HHAT gene (P-value of 6.49×10 with an odds ratio of 2.63, 95% confidence interval of 1.89-3.66). We also genotyped additional SNPs within a 58-kb linkage disequilibrium block surrounding the landmark SNP. CONCLUSION: We suggest rs7527939 to be the strongest indicator of susceptibility to schizophrenia in the Bulgarian population within the HHAT locus

Abstracts Of The Proceedings And The Posters From The Third Scientific Session Of The Medical College Of Varna

October 2-3, 201