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Dementias Platform UK: bringing genetics into life
File(s)
a-k-september24a.pdf (1.39 MB)
Published version
Author(s)
Leonenko, Ganna
Bauermeister, Sarah
Ghanti, Dipanwita
Stevenson-Hoare, Joshua
Simmonds, Emily
Type
Journal Article
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.
Date Issued
2024-05-01
Date Acceptance
2024-01-29
Citation
Alzheimer's and Dementia, 2024, 20 (5), pp.3281-3289
URI
DOI
ISSN
1552-5260
Publisher
Wiley Open Access
Start Page
3281
End Page
3289
Journal / Book Title
Alzheimer's and Dementia
Volume
20
Issue
5
Copyright Statement
© 2024 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/38506636
Subjects
Cohort Studies
Databases, Genetic
Dementia
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Multifactorial Inheritance
United Kingdom
dementia
genetic data
harmonization
imputation
polygenic risk scores
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2024-03-20