Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients

Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV).info:eu-repo/semantics/publishedVersio

Healthier and Independent Living of the Elderly: Interoperability in a Cross-Project Pilot

The ageing of the population creates new heterogeneous challenges for age-friendly living. The progressive decline in physical and cognitive skills tends to prevent elderly people from performing basic instrumental activities of daily living and there is a growing interest in technology for aging support. Digital health today can be exercised by anyone owning a smartphone and parameters such as heart rate, step counts, calorie intake, sleep quality, can be collected and used not only to monitor and improve the individual’s health condition but also to prevent illnesses. However, for the benefits of e-health to take place, digital health data, either Electronic Health Records (EHR) or sensor data from the IoMT, must be shared, maintaining privacy and security requirements but unlocking the potential for research an innovation throughout EU. This paper demonstrates the added value of such interoperability requirements, and a form of accomplishing them through a cross-project pilot

STECF Multiannual management plans SWW and NWW (STECF-15-08)

The STECF was tasked with an analysis of the likely effects of proposed management plans for the Southwestern (Bay of Biscay and Iberia) and Northwestern (Celtic sea) waters. Quantitative analyses were carried out to compare the likely effect of those management plans and of the direct application of the CFP on both stocks and fleets involved in these fisheries. Based on the results of simulations of the provisions of the proposed management plans, STECF concluded that, setting fishing opportunities in line with single-species FMSY ranges will provide managers with additional flexibility compared to the basic provisions of the 2013 CFP. Such flexibility is likely to help alleviate the problem of mismatches in quota availability in mixed-species fisheries thereby reducing the risk of early closure of some fisheries due to choke species. Adopting FMSY ranges will therefore increase the likelihood that desired exploitation rates will be achieved and will reduce the risk that some fishing fleets will go out of business. STECF considers that it is crucial that managers take note that persistent fishing at the upper limits of the FMSY ranges across all or most stocks simultaneously negates the flexibility introduced by the FMSY ranges and greatly increases the risk of overfishing. Such an approach will also increase the risk that the objectives of the CFP will not be achieved. STECF concludes that single species biomass safeguards for all stocks should be maintained to provide a basic level of protection. STECF notes that for the fleets affected by the SWW MAP, those providing the highest employment are generally not dependent to a great extent on the species that will be regulated through the MAP proposals. STECF notes that in the NWW there are some fleets which provide significant levels of employment and seem to be very dependent on the species that will be regulated through the MAP proposals. Nevertheless, there are a number of fleets in the NWW area that are not included in the employment analysis because of an absence of appropriate data. .Regarding the number and scope of MAPs as currently defined, STECF considers that a MAP covering a wider geographic area has advantages in terms of reducing management overheads and avoiding multiple regulations affecting the sector. A larger MAP area however, may have disadvantages associated with reducing the emphasis on local management measures and this may discourage the involvement of stakeholders, although this effect will depend on how the process of regionalization operates within the MAP. To evaluate the question of whether management of the species that drive the fisheries adequately allows for the management of by-catch species, the EWG carried out an analysis of correlations between catches of driver species identified in the plan and a variety of by-catch species. The analysis suggested only limited correlation. In view of this, the STECF notes that it is unlikely that relying on the TAC of the driver species to manage other species will be effective, in accordance with CFP requirements. STECF however notes that when analysis was performed at the fleet level, there were more obvious correlations, suggesting some scope to use fleet related management measures for the driver species as a way of managing some of the bycatch species. STECF therefore concludes that management of exploitation rates of non-driver (or bycatch) species is unlikely to occur as an automatic consequence of the management of the main (driver) stocks by TAC considered in the MAP.DG MAR