ArticlePLoS genetics2019
Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals.Journal of the National Cancer Institute · 2021Pooled it
- Revisiting the genome-wide significance threshold for common variant GWAS.G3 (Bethesda, Md.) · 2021Pooled it
- Assessment of the Influence of UVR in Cutaneous Melanoma.Photodermatology, photoimmunology & photomedicine · 2025Review
- [The concept of the liquid biopsy in the treatment of malignant eye tumours].Die Ophthalmologie · 2024Review
- A framework for understanding selection bias in real-world healthcare data.Journal of the Royal Statistical Society. Series A, (Statistics in Society) · 2024Article
- Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks.BMC medicine · 2024Article
- Polygenic Risk and Chemotherapy-Related Subsequent Malignancies in Childhood Cancer Survivors: A Childhood Cancer Survivor Study and St Jude Lifetime Cohort Study Report.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- The clinical utility of the BMD-related comprehensive genome-wide polygenic score in identifying individuals with a high risk of osteoporotic fractures.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2023Article
- Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals.Biological psychiatry · 2022Article
- The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores.Communications biology · 2022Article
- A Systematic Review of Polygenic Models for Predicting Drug Outcomes.Journal of personalized medicine · 2022Review
- Maturation and application of phenome-wide association studies.Trends in genetics : TIG · 2022Review
- IPRS: Leveraging Gene-Environment Interaction to Reconstruct Polygenic Risk Score.Frontiers in genetics · 2022Article
- Eight pharmacokinetic genetic variants are not associated with the risk of bleeding from direct oral anticoagulants in non-valvular atrial fibrillation patients.Frontiers in pharmacology · 2022Article
- Constructing germline research cohorts from the discarded reads of clinical tumor sequences.Genome medicine · 2021Article
- Statistical genetics and polygenic risk score for precision medicine.Inflammation and regeneration · 2021Review
- Fate or coincidence: do COPD and major depression share genetic risk factors?Human molecular genetics · 2021Article
- Disease risk scores for skin cancers.Nature communications · 2021Observational
- Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction.Nature communications · 2020Article
- Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.American journal of human genetics · 2020Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Polygenic risk scores (PRS) are designed to serve as single summary measures that are easy to construct, condensing information from a large number of genetic variants associated with a disease. They have been used for stratification and prediction of disease risk. The primary focus of this paper is to demonstrate how we can combine PRS and electronic health records data to better understand the shared and unique genetic architecture and etiology of disease subtypes that may be both related and heterogeneous. PRS construction strategies often depend on the purpose of the study, the available data/summary estimates, and the underlying genetic architecture of a disease. We consider several choices for constructing a PRS using data obtained from various publicly-available sources including the UK Biobank and evaluate their abilities to predict not just the primary phenotype but also secondary phenotypes derived from electronic health records (EHR). This study was conducted using data from 30,702 unrelated, genotyped patients of recent European descent from the Michigan Genomics Initiative (MGI), a longitudinal biorepository effort within Michigan Medicine. We examine the three most common skin cancer subtypes in the USA: basal cell carcinoma, cutaneous squamous cell carcinoma, and melanoma. Using these PRS for various skin cancer subtypes, we conduct a phenome-wide association study (PheWAS) within the MGI data to evaluate PRS associations with secondary traits. PheWAS results are then replicated using population-based UK Biobank data and compared across various PRS construction methods. We develop an accompanying visual catalog called PRSweb that provides detailed PheWAS results and allows users to directly compare different PRS construction methods.
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