Publications by authors named "J M Mercader"
Flow cytometry-based immunoassays are valuable in biomedical research and clinical applications due to their high throughput and multianalyte capability, but their adoption in areas such as food safety and environmental monitoring is limited by long assay times and complex workflows. Rapid, simplified bead-based cytometric immunoassays are needed to make these methods viable for point-of-need applications, especially with the increasing accessibility of miniaturized cytometers. This work introduces superparamagnetic hybrid polystyrene-silica core-shell microparticles as promising alternatives to conventional polymer beads in competitive cytometric immunoassays.
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- Polygenic risk scores (PRSs) could enhance disease risk prediction, but their current effectiveness is compromised for non-European populations, creating potential health disparities.
- The PRIMED Consortium aims to improve PRS performance by aggregating diverse genetic data on a cloud platform and evaluating ethical implications related to its implementation.
- Focused on cardiometabolic diseases and cancer, PRIMED seeks to promote equity in polygenic risk assessment through collaboration across multiple research sites and organizations.
Article Synopsis
- The All of Us Research Program (AoU) aims to collect a diverse dataset from over one million people in the USA to enhance research on human diseases, focusing on genetic and phenotypic information.
- This study developed and validated algorithms to identify cases of type 1 and type 2 diabetes using electronic health records and survey data, striving for improved accuracy in case-control studies.
- The results showed the EHR-only algorithm had a better association with type 1 diabetes genetic scores, while the EHR+ algorithm was superior for type 2 diabetes, identifying significantly more cases than previous definitions and providing new validated definitions for both diabetes types.
Article Synopsis
- Type 2 diabetes (T2D) genome-wide association studies (GWASs) typically miss rare genetic variants due to limitations in previous imputation methods and insufficient whole-genome sequencing data.
- In a large-scale study involving over half a million individuals, researchers uncovered 12 new genetic variants linked to T2D, including a rare enhancer variant near the LEP gene that significantly increases risk.
- The study also analyzed ClinVar variants related to monogenic diabetes, identifying additional rare variants that affect T2D risk and offering new insights into the pathogenicity of certain variants previously deemed uncertain.