Giulia Rizzo results 14
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The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decadeNARA Subscribed
Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation of genetic variants in large, heterogeneous cohorts presents significant challenges that automated pipelines often fail to resolve. This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios. While ES established a molecular diagnosi...
Energy saving starts in the kitchenNARA Subscribed
The study of the relationships between growth patterns, energy reserves and reproduction, and their interdependency with environmental variables is crucial to increase the knowledge of the physiological processes regulating the recruitment and survival of commercially exploited bivalve species. In the present study, the biochemical profile and gametogenic cycle of the striped Venus clam Chamelea gallina monthly sampled in fish...
The genomic era has resulted in the generation of a massive amount of genetic data concerning the genomic diversity of bacterial taxa. As a result, the microbiological community is increasingly looking for ways to define reference bacterial strains to perform experiments that are representative of the entire bacterial species. Despite this, there is currently no established approach allowing a reliable identification of refere...
Luminescent bacteria are a fascinating component of marine microbial communities, often related to the light emissions in deep sea marine organisms. They are mainly affiliated with specific phylogenetic groups, such as Photobacterium, Vibrio, and Photorhabdus, and are sometimes involved in symbiotic relationships. However, the luminescence of some marine organisms remains a poorly understood process, and it is not always certa...
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severityNARA Subscribed
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the pr...
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