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Published on: October 20, 2016
Dementias Platform UK: Bringing genetics into life.
Ganna Leonenko1, Sarah Bauermeister2, Dipanwita Ghanti2
1Dementia Research Institute, Cardiff University, Cardiff, UK.
The Dementias Platform UK (DPUK) Data Portal now offers harmonized genetic data from multiple cohorts. This resource facilitates large-scale research into the genetic underpinnings of neurodegenerative dementias.
Area of Science:
- Genetics
- Neuroscience
- Data Science
Background:
- Neurodegenerative dementias exhibit complex and poorly understood genetic heterogeneity.
- The Dementias Platform UK (DPUK) Data Portal aggregates diverse cohort data.
- Combining genetic and phenotypic data across cohorts can advance neurodegeneration research.
Purpose of the Study:
- To process and harmonize genetic data from multiple cohorts within the DPUK Data Portal.
- To make research-ready genetic data and polygenic risk scores (PRS) available to the research community.
Main Methods:
- Development of standardized pipelines for genetic data processing, including quality control and imputation.
- Application of these pipelines to five independent cohorts, utilizing six genome-wide association studies for neurodegenerative diseases.
- Derivation of polygenic risk scores (PRS) for neurodegenerative diseases.
Main Results:
- Processed and harmonized genome-wide genetic data are now available on the DPUK platform.
- Research-ready imputed genetic data and PRS scores are accessible via the DPUK application process.
- Standardized pipelines enable scalable and efficient genetic data analysis.
Conclusions:
- Harmonizing genome-wide data across multiple datasets significantly enhances research opportunities.
- The DPUK platform provides a valuable resource for large-scale genetic analysis of neurodegenerative dementias.
- Increased accessibility of processed genetic data accelerates research pace and scope.
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