Browsing: systematic

Digital technologies are integral to daily life, with individuals spending substantial time in digital environments. Evidence increasingly links this exposure to adverse health outcomes, but research remains fragmented and relies largely on “screen time” as a crude proxy. The full spectrum of these health outcomes and the metrics needed to assess them remain poorly defined.…

Rare and undiagnosed diseases pose diagnostic challenges due to phenotypic and genetic heterogeneity and the limitations of conventional molecular testing. As part of the RareBoost project, we implemented an integrated, stepwise genomic strategy in a cohort of 134 patients from 120 families with previously inconclusive genetic testing. Our strategy combined systematic exome sequencing with subsequent…