{"doi":"10.1371/journal.pgen.1008202","title":"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","abstract":null,"journal":"PLOS Genetics","year":2019,"id":588407,"datarank":1.681015805317528,"base_score":3.58351893845611,"endowment":3.58351893845611,"self_citation_contribution":0.5375278407684165,"citation_network_contribution":1.1434879645491114,"self_endowment_contribution":0.5375278407684165,"citer_contribution":1.1434879645491114,"corpus_percentile":null,"corpus_rank":null,"citation_count":35,"citer_count":27,"citers_with_citation_signal":25,"citers_with_endowment":25,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":487076,"name":"Lauren J. 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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.","is_dataset_classified":null,"base_score":3.58351893845611,"endowment":3.58351893845611,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"31194742","pmcid":"PMC6592565","openalex_id":"https://openalex.org/W2951135001","authors":[],"funders":[{"funder_name":"National Cancer Institute","grant_id":"P30 CA046592","title":null},{"funder_name":"National Cancer Institute","grant_id":"T32 CA83654","title":null},{"funder_name":"National Science Foundation","grant_id":"DMS 1712933","title":null},{"funder_name":"Precision Health, University if Michigan (US)","grant_id":"U063790","title":null},{"funder_name":"NCI NIH HHS","grant_id":"T32 CA083654","title":null},{"funder_name":"National Institutes of Health","grant_id":"5T32CA083654-04","title":"Biostatistics Training in Cancer Research"},{"funder_name":"National Science Foundation","grant_id":"1712933","title":"High Dimensional Mediation Analysis with Multi-Omics Data"},{"funder_name":"National Institutes of Health","grant_id":"3P30CA046592-31S7","title":"Cancer Center Support Grant 2018-2023"}],"total_grants":8,"fwci":2.1543,"citation_percentile":0.88245907,"influential_citations":0,"citation_trend":[{"year":2017,"count":1},{"year":2019,"count":1},{"year":2020,"count":10},{"year":2021,"count":7},{"year":2022,"count":8},{"year":2023,"count":2},{"year":2024,"count":5},{"year":2025,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008202&type=printable","host_type":"journal"},{"url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008202&type=printable","host_type":"GOLD"},{"url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008202&type=printable","host_type":"publisher"},{"url":"http://dx.plos.org/10.1371/journal.pgen.1008202","host_type":"publisher"},{"url":"https://doi.org/10.1371/journal.pgen.1008202","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/31194742","host_type":"repository"},{"url":"https://doaj.org/article/2b678215273147fd801fff7e85f21f31","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6592565","host_type":"repository"},{"url":"https://figshare.com/articles/dataset/Exploring_various_polygenic_risk_scores_for_skin_cancer_in_the_phenomes_of_the_Michigan_genomics_initiative_and_the_UK_Biobank_with_a_visual_catalog_i_PRSWeb_i_/8270216","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC6592565","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC6592565?pdf=render","host_type":"Europe_PMC"},{"url":"https://doi.org/10.1101/384909","host_type":""},{"url":"http://dx.doi.org/10.1371/journal.pgen.1008202","host_type":""},{"url":"https://dx.doi.org/10.1101/384909","host_type":""},{"url":"https://dx.doi.org/10.1371/journal.pgen.1008202","host_type":""},{"url":"http://dx.doi.org/10.1101/384909","host_type":""}],"fields_of_study":["Molecular Biology Techniques and Applications","Cutaneous Melanoma Detection and Management","Cancer Genomics and Diagnostics","Medicine","Biology","Computer Science","0301 basic medicine","0303 health sciences","03 medical and health sciences","Biological Specimen Banks","Electronic Health Records","Genetic Predisposition to Disease","Genome-Wide Association Study","Genomics","Genotype","Humans","Michigan","Multifactorial Inheritance","Phenotype","Polymorphism, Single Nucleotide","Risk Factors","Skin Neoplasms","United Kingdom"],"mesh_terms":["Genotype","United Kingdom","Humans","Michigan","Phenotype","Risk Factors","Skin Neoplasms","Biological Specimen Banks","Genetic Predisposition to Disease","Multifactorial Inheritance","Polymorphism, Single Nucleotide","Genomics","Genome-Wide Association Study","Electronic Health Records"],"keywords":["Biobank","Phenome","Biorepository","Genetic architecture","Disease","Biology","Skin cancer","Genomics","Precision medicine","Population","Genome-wide association study","Cancer","Bioinformatics","Genetics","Medicine","Quantitative trait locus","Phenotype","Pathology","Genotype","Environmental health","Genome","Single-nucleotide polymorphism","Michigan","Multifactorial Inheritance","Skin Neoplasms","QH426-470","Polymorphism, Single Nucleotide","United Kingdom","Risk Factors","Electronic Health Records","Humans","Genetic Predisposition to Disease","Research Article","Biological Specimen Banks"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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