The personal and clinical utility of polygenic risk scores

2018/05/22 by Ali Torkamani, Nathan E. Wineinger, Eric J. Topol · 1 voice · 21 citations
Biochemistry, Genetics and Molecular Biology · #BRCA gene mutations in cancer #Genetic Associations and Epidemiology #Genomics and Rare Diseases

paper · doi:10.1038/s41576-018-0018-x

crossref issued 2018/05/22 · crossref published 2018/05/22 · crossref published-online 2018/05/22 · openalex publication_date 2018/05/22 · crossref created 2018/05/22 · crossref published-print 2018/09/01 · crossref deposited 2023/05/20 · openalex created_date 2025/10/10 · crossref indexed 2026/07/30 · openalex updated_date 2026/08/02

Citations

• A New Initiative on Precision Medicine
• Prevalence of BRCA1 and BRCA2 Gene Mutations in Patients With Early-Onset Breast Cancer
• Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
• Limitations of GCTA as a solution to the missing heritability problem
• 10 Years of GWAS Discovery: Biology, Function, and Translation

Cited by

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• The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory
• Diversifying Psychiatric Genomics
• Phantom epistasis through the lens of genealogies
• Artificial intelligence across the cancer care continuum
• Tutorial: a guide to performing polygenic risk score analyses
• Long‐term cardiovascular risk in women with hypertensive disorders of pregnancy: Insights from polygenic risk scores
• Polygenic Risk Score Is Associated with Developing and Dying from Lung Cancer in the National Lung Screening Trial
• An Experimental-Design Perspective on Population Genetic Variation
• Prime editing: advances and therapeutic applications
• Heritability and polygenic load for comorbid anxiety and depression
• The accuracy of polygenic score models for BMI and Type II diabetes in the Native Hawaiian population
• Proteomic signatures improve risk prediction for common and rare diseases
• Polygenic risk score prediction of complex diseases in companion animals: prospects, opportunities, and challenges
• The Fortunes of Genomic Medicine: A Quarter Century of Promise
• Moderation of treatment outcomes by polygenic risk for alcohol‐related traits in placebo‐controlled trials of topiramate
• Confounding fuels misinterpretation in human genetics
• Variable prediction accuracy of polygenic scores within an ancestry group
• Populations, Traits, and Their Spatial Structure in Humans
• EFGPP: Exploratory framework for genotype-phenotype prediction
• Genome-wide polygenic risk score for retinopathy of type 2 diabetes

Discussions

• ちょっと古くなったけどこの論文たまに探しても見つからないからメモっとこう　Torkamani, A., Wineinger, N.E. & Topol, E.J. The personal and clinical utility of polygenic risk scores. Nat Rev Genet 19, 581–590 (2018). doi.org/10.1038/s415... [bsky, 0 points, 1 comments]