The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

Functional annotation and interpretation of genetic variants are a critical step in genetic diagnosis, as it may lead to personalized therapeutic options and genetic counseling. While the number of confirmed pathogenic genetic variants in an individual is relatively low, the number of variants of uncertain significance (VOUS) can be considerably higher, increasing the number of potential carriers of genetic disorders. Thus, reducing uncertainty and assessing the real effect of VOUS are crucial for clinical and medical genetics.

Spatial versus spatio-temporal approaches for studying metacommunities: a multi-taxon analysis in Mediterranean and tropical temporary ponds.

Prior research on metacommunities has largely focused on snapshot surveys, often overlooking temporal dynamics. In this study, our aim was to compare the insights obtained from metacommunity analyses based on a spatial approach repeated over time, with a spatio-temporal approach that consolidates all data into a single model. We empirically assessed the influence of temporal variation in the environment and spatial connectivity on the structure of metacommunities in tropical and Mediterranean temporary ponds.

Tracking environmental changes in restored Mediterranean dune slacks.

Restoration is an ecological tool that aims to recover the prior conditions and functioning of a degraded habitat. Three restoration projects targeted a dune slack system in the Eastern Iberian Peninsula and created a mosaic of ponds restored over three different periods: 1998, 2003 and 2007, the latter coinciding with the start of our study. Restoration works consisted of digging out the pond basin to its original morphometry.

Effects of Bacillus thuringiensis var. israelensis on nonstandard microcrustacean species isolated from field zooplankton communities.

The toxicity of Bacillus thuringiensis var. israelensis on zooplanktonic microcrustaceans was evaluated using individuals collected in coastal wetlands where this larvicide has been used for mosquito control over the last decades. We tested five zooplankton species that coexist with mosquito larvae: two copepods (both nauplii and adults of Tropocyclops prasinus and Acantocyclops americanus), and three cladocerans (Ceriodaphnia reticulata, Chydorus sphaericus, and Daphnia cf.

Human-mediated dispersal of aquatic invertebrates with waterproof footwear.

Human-mediated dispersal has rarely been considered in wetland conservation strategies at regional scales, yet high concern exists about this aspect for (inter-)national management considering invasive species in other aquatic systems. In this context, we aim at understanding the role of human-mediated dispersal by footwear in protected wetlands with high conservation value. Zooplankton and zoobenthos were sampled in 13 shallow lakes in central Spain and, at the same time, mud attached to waders was collected and later cultured in deionized water under laboratory conditions for 4 weeks.