Publications by authors named "C G Pantazis"
Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (GBA1). This variant ( rs3115534 -G) is carried by ~50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups but is almost absent in European and Asian ancestry populations.
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- Latin America's genetic diversity offers a unique opportunity to study Alzheimer's disease (AD) and frontotemporal dementia (FTD), with a focus on identifying related genetic variations.
- The study involved 2,162 participants from six countries who underwent extensive genomic sequencing and analysis to detect genetic factors linked to these dementias.
- Results highlighted a mix of American, African, and European ancestries, discovered 17 pathogenic variants, and revealed specific genetic variations tied to AD and FTD inheritance patterns in affected families.
Article Synopsis
- - The paper explores using Large Language Models (LLMs) to streamline data wrangling and automate tasks in data discovery and harmonization, crucial for making biomedical data AI-ready by developing Common Data Elements (CDEs).
- - A human-in-the-loop approach was utilized to ensure the accuracy of generated CDEs from various studies and databases, achieving a high accuracy rate where 94.0% of fields required no manual changes, with an interoperability mapping rate of 32.4%.
- - The resulting CDEs are designed to improve dataset compatibility by measuring how well different data sources align with these standards, ultimately enhancing the efficiency and scalability of biomedical research efforts.
Article Synopsis
- The iDA Project is creating 200 special, lab-grown cells from people who take part in a study about Alzheimer’s disease.
- These cells include a mix of male and female donors, different stages of the disease, and various backgrounds.
- The project will share all the cells and information about them for others to use.