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Dementias Platform UK: Bringing genetics into life

Ganna Leonenko¹, Sarah Bauermeister², Dipanwita Ghanti²

¹Dementia Research Institute, Cardiff University, Cardiff, UK.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association

|March 20, 2024

Abstract

Introduction:

The Dementias Platform UK (DPUK) Data Portal is a data repository bringing together a wide range of cohorts. Neurodegenerative dementias are a group of diseases with highly heterogeneous pathology and an overlapping genetic component that is poorly understood. The DPUK collection of independent cohorts can facilitate research in neurodegeneration by combining their genetic and phenotypic data.

Methods:

For genetic data processing, pipelines were generated to perform quality control analysis, genetic imputation, and polygenic risk score (PRS) derivation with six genome-wide association studies of neurodegenerative diseases. Pipelines were applied to five cohorts.

Discussion:

The data processing pipelines, research-ready imputed genetic data, and PRS scores are now available on the DPUK platform and can be accessed upon request though the DPUK application process. Harmonizing genome-wide data for multiple datasets increases scientific opportunity and allows the wider research community to access and process data at scale and pace.

Keywords:

dementia genetic data harmonization imputation polygenic risk scores

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