Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment of Genome Interpretation (CAGI) challenge, a dataset of 28 STK11 rare variants (27 missense, 1 single amino acid deletion), identified in primary non-small cell lung cancer biopsies, was experimentally assay...

Elasmobranch species are the direct or accidental catch of fisheries and can have a commercial importance. In the Mediterranean Sea, a long-term period of overfishing brought several demersal elasmobranchs to be depleted and threatened by extinction, due to vulnerability related to their life history traits. In such exploited species, information on genetic diversity and connectivity is lacking and should be collected to ident...

The Mediterranean Sea has a long-lasting history of fishery exploitation that, together with other anthropogenic impacts, has led to declines in several marine organisms. In particular, elasmobranch populations have been severely impacted, with drastic decreases in abundance and species diversity. Based on their experience, fishers can provide information on marine species occurrence, abundance and behavioural traits on a long...