2 documents found, page 1 of 1
Medically actionable secondary findings from whole-exome sequencing (WES) data ...
Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venâncio, Margarida; Sequeiros, Jorge; Freixo, João ParentePublisher Copyright: © 2025 by the authors.; The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-causing variants in genes, related to life-threatening and clinically actionable diseases. Clarifying the allelic frequencies of such ...
Study around the Barroso mine (Portugal)
Jesus, Susana; Ventura, Marta; Assunção, Ricardo; Gueifão, Sandra; Delgado, Inês; Rego, Andreia; Ribeiro, Mariana; Martins, Marta; Neves, OrquídiaPublisher Copyright: © 2024; The energetic green transition is increasing the demand for lithium (Li) exploitation. However, the Li supply faces challenges like limited reserves and environmental concerns. This pioneer study aims to characterize the Li concentrations in the region around the Barroso mine, in Portugal, by collecting and analyzing samples of cabbage, potato, drinking and irrigation water and soil...