The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
| Autor: | Page, Madeline L, Vance, Elizabeth L, Cloward, Matthew E, Ringger, Ed, Dayton, Louisa, Ebbert, Mark TW, Alzheimer’s Disease Neuroimaging Initiative, Miller, Justin B, Kauwe, John SK |
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| Rok vydání: | 2022 |
| Předmět: |
Multifactorial Inheritance
Knowledge Bases Prevention Human Genome Alzheimer’s Disease Neuroimaging Initiative Single Nucleotide Good Health and Well Being Risk Factors Genetics Humans 2.1 Biological and endogenous factors Genetic Predisposition to Disease Polymorphism Aetiology Genome-Wide Association Study Biotechnology |
| Zdroj: | Communications biology, vol 5, iss 1 |
| Popis: | The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu ) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer's Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research. |
| Databáze: | OpenAIRE |
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