Abstract
We present a comparative analysis of PARK2 genetic variants based on genotype data from HapMap. We focused our study on the association between missense mutations and all other variations within the same gene to uncover patterns of hidden genetic variation. Alzheimer's disease (AD) and Parkinson's disease (PD) are the main neurodegenerative diseases and represent a growing health concern worldwide, with the increase in the elderly population. Mutations in several genes have been associated with either AD or PD, and the number of novel genetic variants characterized is expanding rapidly with the introduction of next generation sequencing technologies. Most of these variants, however, are of unknown consequences as their effect might be mediated through association with additional mutations. Our results show that significant correlation between genetic variants exists and their co-occurrence might contribute to previously unidentified risk increase.

Abstract
Recent embedded processor architectures containing multiple heterogeneous cores and non-coherent caches, bring renewed attention to the use of Software Transactional Memory (STM) as a building block for developing parallel applications. STM promises to ease concurrent and parallel software development, but relies on the possibility of abort conflicting transactions to maintain data consistency, which affects the execution time of tasks carrying transactions. Thus, execution time overheads resulting from aborts must be limited, otherwise the timing behaviour of the task set will not be predictable. In this paper we formalise a FIFO-based algorithm to order the sequence of commits of concurrent transactions. Furthermore, we propose and evaluate two non-preemptive scheduling strategies, in order to avoid transaction starvation. © 2014 Springer International Publishing Switzerland.

Abstract
This paper presents a set of methods and techniques to remove inefficiencies in a data analysis application used in searches by the ATLAS Experiment at the Large Hadron Collider. Profiling scientific code helped to pinpoint design and runtime inefficiencies, the former due to coding and data structure design. The data analysis code used by groups doing searches in the ATLAS Experiment contributed to clearly identify some of these inefficiencies and to give suggestions on how to prevent and overcome those common situations in scientific code to improve the efficient use of available computational resources in a parallel homogeneous platform.

Abstract
Managing research data often requires the creation or reuse of specialised metadata schemas to satisfy the metadata requirements of each research group. Ontologies present several advantages over metadata schemas. In particular, they can be shared and improved upon more easily, providing the flexibility required to establish relationships between datasets and concepts from distinct domains. In this paper, we present a preliminary experiment on the use of ontologies for the description of biodiversity datasets. With a strong focus on the dynamics of individual species, species diversity, biological communities and ecosystems, the Predictive Ecology research group of CIBIO has adopted the INSPIRE European recommendation as the primary tool for metadata compliance across its research data description. We build upon this experience to model the BIOME ontology for the biodiversity domain. The ontology combines concepts from INSPIRE, matching them against the ones defined in the Dublin Core, FOAF and CERIF ontologies. Dendro, a prototype for collaborative data description, uses the ontology to provide an environment where biodiversity metadata records are available as Linked Open Data.

Abstract
Nicotinamide phosphoribosyltransferase (NAMPT) and nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1) are the main human NAD salvage enzymes. NAD regulates energy metabolism and cell signaling, and the enzymes that control NAD availability are linked to pathologies such as cancer and neurodegeneration. Here, we have screened normal and tumor samples from different tissues and populations of origin for mutations in human NAMPT and NAPRT1, and evaluated their potential pathogenicity. We have identified several novel polymorphisms and showed that NAPRT1 has a greater genetic diversity than NAMPT, where any alteration can have a greater functional impact. Some variants presented different frequencies between normal and tumor samples that were most likely related to their population of origin. The novel mutations described that affect protein structure or expression levels can be functionally relevant and should be considered in a disease context. Particularly, mutations that decrease NAPRT1 expression can predict the usefulness of Nicotinic Acid in tumor treatments with NAMPT inhibitors.

Abstract
Public speaking is a widely requested professional skill, and at the same time an activity that causes one of the most common adult phobias (Miller and Stone, 2009). It is also known that the study of stress under laboratory conditions, as it is most commonly done, may provide only limited ecological validity (Wilhelm and Grossman, 2010). Previously, we introduced an inter-disciplinary methodology to enable collecting a large amount of recordings under consistent conditions (Aguiar et al., 2013). This paper introduces the VOCE corpus of speech annotated with stress indicators under naturalistic public speaking (PS) settings. The novelty of this corpus is that the recordings are carried out in objectively stressful PS situations, as recommended in (Zanstra and Johnston, 2011). The current database contains a total of 38 recordings, 13 of which contain full psychologic and physiologic annotation. We show that the collected recordings validate the assumptions of the methodology, namely that participants experience stress during the PS events. We describe the various metrics that can be used for physiologic and psychologic annotation, and we characterise the sample collected so far, providing evidence that demographics do not affect the relevant psychologic or physiologic annotation. The collection activities are on-going, and we expect to increase the number of complete recordings in the corpus to 30 by June 2014.