دورية أكاديمية

The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

التفاصيل البيبلوغرافية
العنوان: The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
المؤلفون: Weiner, MW, Aisen, P, Petersen, R, Jack, CR, Jagust, W, Trojanowki, JQ, Toga, AW, Beckett, L, Green, RC, Saykin, AJ, Morris, JC, Perrin, RJ, Shaw, LM, Khachaturian, Z, Carrillo, M, Potter, W, Barnes, L, Bernard, M, González, H, Ho, C, Hsiao, JK, Jackson, J, Masliah, E, Masterman, D, Okonkwo, O, Perrin, R, Ryan, L, Silverberg, N, Fleisher, A, Sacrey, DT, Fockler, J, Conti, C, Veitch, D, Neuhaus, J, Jin, C, Nosheny, R, Ashford, M, Flenniken, D, Kormos, A, Monine, T, Rafii, M, Raman, R, Jimenez, G, Donohue, M, Gessert, D, Salazar, J, Zimmerman, C, Cabrera, Y, Walter, S, Miller, G, Coker, G, Clanton, T, Hergesheimer, L, Smith, S, Adegoke, O, Mahboubi, P, Moore, S, Pizzola, J, Shaffer, E, Sloan, B, Harvey, D, Forghanian-Arani, A, Borowski, B, Ward, C, Schwarz, C, Jones, D, Gunter, J, Kantarci, K, Senjem, M, Vemuri, P, Reid, R, Fox, NC, Malone, I, Thompson, P, Thomopoulos, SI, Nir, TM, Jahanshad, N, DeCarli, C, Knaack, A, Fletcher, E, Tosun-Turgut, D, Chen, SR, Choe, M, Crawford, K, Yushkevich, PA, Das, S, Koeppe, RA, Reiman, EM, Chen, K, Mathis, C, Landau, S, Cairns, NJ, Householder, E, Franklin, E, Bernhardt, H, Taylor-Reinwald, L, Tojanowki, JQ, Korecka, M, Figurski, M
المصدر: Communications Biology, vol 5, iss 1
بيانات النشر: eScholarship, University of California
سنة النشر: 2022
المجموعة: University of California: eScholarship
مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Human Genome, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Knowledge Bases, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Risk Factors, Alzheimer’s Disease Neuroimaging Initiative, Biomedical and clinical sciences
الوصف: 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.eduTest ) 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.
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: unknown
العلاقة: qt23t7c5p2; https://escholarship.org/uc/item/23t7c5p2Test
الإتاحة: https://escholarship.org/uc/item/23t7c5p2Test
حقوق: public
رقم الانضمام: edsbas.13FCF18D
قاعدة البيانات: BASE