A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

Background: Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.

Methods: Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization.

Assessing COVID-19 Vaccine Effectiveness and Risk Factors for Severe Outcomes through Machine Learning Techniques: A Real-World Data Study in Andalusia, Spain.

Background: COVID-19 vaccination has become a pivotal global strategy in managing the pandemic. Despite COVID-19 no longer being classified as a Public Health Emergency of International Concern, the virus continues affecting people worldwide. This study aimed to evaluate risk factors and vaccine effectiveness on COVID-19-related hospital admissions, intensive care unit (ICU) admission and mortality within the Andalusian population throughout the pandemic.

Genotypic characterization and antimicrobial susceptibility of human isolates in Southern Spain.

is the main cause of bacterial gastroenteritis and a public health problem worldwide. Little information is available on the genotypic characteristics of human in Spain. This study is based on an analysis of the resistome, virulome, and phylogenetic relationship, antibiogram prediction, and antimicrobial susceptibility of 114 human isolates of from a tertiary hospital in southern Spain from October 2020 to June 2023.

The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic.

The One Health approach, recognizing the interconnectedness of human, animal, and environmental health, has gained significance amid emerging zoonotic diseases and antibiotic resistance concerns. This paper aims to demonstrate the utility of a collaborative tool, the SIEGA, for monitoring infectious diseases across domains, fostering a comprehensive understanding of disease dynamics and risk factors, highlighting the pivotal role of One Health surveillance systems. Raw whole-genome sequencing is processed through different species-specific open software that additionally reports the presence of genes associated to anti-microbial resistances and virulence.