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.

Assessment of background dose rate on non-human biota in a Mediterranean terrestrial ecosystem.

The assessment of radiological impact to the environment is usually carried out by the dose rate estimation to hypothetical entities named Reference Animals and Plants (RAPs). There are many codes to carry out this assessment, which requires the definition of a scenario and using site-specific transfer parameters when possible. Transfer parameters present a geographical bias, as they are mostly derived from temperate and arctic climate datasets, but there is a scarcity of data for Mediterranean climates.