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英国痴呆症研究平台:让遗传学走进生活。

Dementias Platform UK: Bringing genetics into life.

机构信息

Dementia Research Institute, Cardiff University, Cardiff, UK.

Dementias Platform UK, Department of Psychiatry, University of Oxford, Oxford, UK.

出版信息

Alzheimers Dement. 2024 May;20(5):3281-3289. doi: 10.1002/alz.13782. Epub 2024 Mar 20.

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.

摘要

简介

英国痴呆症平台(DPUK)数据门户是一个数据存储库,汇集了广泛的队列。神经退行性痴呆是一组具有高度异质性病理学和遗传成分重叠的疾病,目前了解甚少。DPUK 收集的独立队列可以通过合并他们的遗传和表型数据来促进神经退行性疾病的研究。

方法

为了进行遗传数据分析,我们生成了一系列的流程来进行质量控制分析、遗传数据推断以及利用六个神经退行性疾病的全基因组关联研究来计算多基因风险评分(PRS)。这些流程应用于五个队列。

讨论

现在,数据处理流程、可用于研究的遗传数据以及 PRS 评分已经在 DPUK 平台上提供,并可通过 DPUK 应用程序请求访问。对多个数据集的全基因组数据进行协调,可以增加科学机会,并使更广泛的研究社区能够大规模、快速地访问和处理数据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9067/11095482/340b34d4b031/ALZ-20-3281-g003.jpg

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