Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000142 1 1 Archambault AN Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer. Gastroenterology 19/12/2019 10.1053/j.gastro.2019.12.012 31866242
PGP000463 2 2 Kleeman SO Cystatin C is glucocorticoid responsive, directs recruitment of Trem2+ macrophages, and predicts failure of cancer immunotherapy. Cell Genom 23/06/2023 10.1016/j.xgen.2023.100347 37601967
PGP000491 1 0 Fernandez-Rozadilla C Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet 20/12/2022 10.1038/s41588-022-01222-9 36539618
PGP000296 1 1 Pirruccello JP Deep learning enables genetic analysis of the human thoracic aorta. Nat Genet 26/11/2021 10.1038/s41588-021-00962-4 34837083
PGP000670 1 1 Sekimitsu S Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden. JAMA Ophthalmol 01/09/2023 10.1001/jamaophthalmol.2023.3645 37589995
PGP000174 1 1 Guffanti G Depression genetic risk score is associated with anhedonia-related markers across units of analysis. Transl Psychiatry 19/09/2019 10.1038/s41398-019-0566-7 31537779
PGP000071 1 1 Jeon J Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors. Gastroenterology 17/02/2018 10.1053/j.gastro.2018.02.021 29458155
PGP000354 3 3 Ping J Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians. Int J Cancer 29/06/2022 10.1002/ijc.34194 35765848
PGP000643 1 1 Tian J Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies. Genome Med 13/06/2024 10.1186/s13073-024-01355-y 38872215
PGP000518 2 2 Wei X Development and evaluation of a polygenic risk score for lung cancer in never-smoking women: A large-scale prospective Chinese cohort study. Int J Cancer 17/10/2023 10.1002/ijc.34765 37846649
PGP000344 3 3 Bafligil C Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women. Genet Med 15/06/2022 10.1016/j.gim.2022.05.014 35704044
PGP000661 1 1 Tsepilov YA Development and Replication of a Genome-Wide Polygenic Risk Score for Chronic Back Pain. J Pers Med 10/06/2023 10.3390/jpm13060977 37373966
PGP000014 1 2 Sharp SA Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis. Diabetes Care 01/02/2019 10.2337/dc18-1785 30655379
PGP000590 1 1 Shieh Y Development and testing of a polygenic risk score for breast cancer aggressiveness. NPJ Precis Oncol 15/05/2023 10.1038/s41698-023-00382-z 37188791
PGP000285 1 1 Lu X Development and Validation of a Polygenic Risk Score for Stroke in the Chinese Population. Neurology 24/05/2021 10.1212/wnl.0000000000012263 34031205
PGP000508 0 1 Dite GS Development and validation of a simple prostate cancer risk prediction model based on age, family history, and polygenic risk. Prostate 16/04/2023 10.1002/pros.24537 37062910
PGP000331 1 1 Ge T Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. Genome Med 29/06/2022 10.1186/s13073-022-01074-2 35765100
PGP000478 2 3 Ohbe H Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study. Breast Cancer Res Treat 20/12/2022 10.1007/s10549-022-06843-6 36538246
PGP000381 0 6 Hao L Development of a clinical polygenic risk score assay and reporting workflow. Nat Med 18/04/2022 10.1038/s41591-022-01767-6 35437332
PGP000120 1 1 Forgetta V Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study. PLoS Med 02/07/2020 10.1371/journal.pmed.1003152 32614825
PGP000121 4 4 Tam CHT Development of genome-wide polygenic risk scores for lipid traits and clinical applications for dyslipidemia, subclinical atherosclerosis, and diabetes cardiovascular complications among East Asians. Genome Med 19/02/2021 10.1186/s13073-021-00831-z 33608049
PGP000719 1 1 Dai L Diabetes status, genetic susceptibility, and incident arrhythmias: A prospective cohort study of 457,151 participants. Diabetes Metab Syndr 01/03/2024 10.1016/j.dsx.2024.102971 38458077
PGP000184 1 1 Clark H Differential associations of allergic disease genetic variants with developmental profiles of eczema, wheeze and rhinitis. Clin Exp Allergy 15/10/2019 10.1111/cea.13485 31441980
PGP000722 0 1 Yuan S Digestive System Diseases, Genetic Risk, and Incident Dementia: A Prospective Cohort Study. Am J Prev Med 31/10/2023 10.1016/j.amepre.2023.10.017 37918457
PGP000409 2 2 Aragam KG Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat Genet 06/12/2022 10.1038/s41588-022-01233-6 36474045
PGP000170 1 0 Huyghe JR Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet 03/12/2018 10.1038/s41588-018-0286-6 30510241
PGP000138 3 3 Fontanillas P Disease risk scores for skin cancers. Nat Commun 08/01/2021 10.1038/s41467-020-20246-5 33420020
PGP000326 1 1 Maj C Dissecting the Polygenic Basis of Primary Hypertension: Identification of Key Pathway-Specific Components. Front Cardiovasc Med 16/02/2022 10.3389/fcvm.2022.814502 35252394
PGP000448 8 8 Berndt SI Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. Leukemia 22/10/2022 10.1038/s41375-022-01711-0 36273105
PGP000675 1 1 Pandeya N Does genetic risk modify the effect of skin screening on melanoma detection rates? Br J Dermatol 01/12/2023 10.1093/bjd/ljad333 37681503
PGP000424 1 1 Olsen CM Does polygenic risk influence associations between sun exposure and melanoma? A prospective cohort analysis. Br J Dermatol 17/12/2019 10.1111/bjd.18703 31747047
PGP000356 0 1 Varma A Early prediction of prostate cancer risk in younger men using polygenic risk scores and electronic health records. Cancer Med 25/06/2022 10.1002/cam4.4934 35751453
PGP000208 0 1 Riaz M Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population. Aging Cell 26/05/2021 10.1111/acel.13384 34041846
PGP000580 1 1 Zhuang P Effect of Diet Quality and Genetic Predisposition on Hemoglobin A1C and Type 2 Diabetes Risk: Gene-Diet Interaction Analysis of 357,419 Individuals. Diabetes Care 25/08/2021 10.2337/dc21-1051 34433621
PGP000662 0 1 Xia X Egg consumption and risk of coronary artery disease, potential amplification by high genetic susceptibility: a prospective cohort study. Am J Clin Nutr 21/08/2023 10.1016/j.ajcnut.2023.06.009 37793743
PGP000677 0 4 Renier TJ Elucidating pathways to pediatric obesity: a study evaluating obesity polygenic risk scores related to appetitive traits in children. Int J Obes (Lond) 22/09/2023 10.1038/s41366-023-01385-3 37736781
PGP000768 1 1 Marston NA Endothelial cell-related genetic variants identify LDL cholesterol-sensitive individuals who derive greater benefit from aggressive lipid lowering. Nat Med 26/02/2025 10.1038/s41591-025-03533-w 40011692
PGP000678 1 2 Zhu M Ethnic differences of genetic risk and smoking in lung cancer: two prospective cohort studies. Int J Epidemiol 01/12/2023 10.1093/ije/dyad118 37676847
PGP000112 4 4 Ho WK European polygenic risk score for prediction of breast cancer shows similar performance in Asian women. Nat Commun 31/07/2020 10.1038/s41467-020-17680-w 32737321
PGP000684 2 2 Abramowitz SA Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores. JAMA 16/11/2024 10.1001/jama.2024.23784 39549270
PGP000179 3 6 Du Z Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry. J Natl Cancer Inst 26/03/2021 10.1093/jnci/djab050 33769540
PGP000328 9 9 Choi J Evaluating polygenic risk scores in assessing risk of nine solid and hematologic cancers in European descendants. Int J Cancer 09/07/2020 10.1002/ijc.33176 32588423
PGP000345 1 1 Lai D Evaluating risk for alcohol use disorder: Polygenic risk scores and family history. Alcohol Clin Exp Res 10/03/2022 10.1111/acer.14772 35267208
PGP000749 1 1 Nakano S Evaluating sex-specific prediction models for colorectal cancer risk using a genome-wide polygenic risk score and lifestyle factors in a Japanese population. Cancer Epidemiol 16/07/2025 10.1016/j.canep.2025.102878 40675087
PGP000436 1 1 Kelemen M Evaluating the cost-effectiveness of polygenic risk score-stratified screening for abdominal aortic aneurysm. Nat Commun 14/09/2024 10.1038/s41467-024-52452-w 39277617
PGP000074 1 1 Xin J Evaluating the effect of multiple genetic risk score models on colorectal cancer risk prediction. Gene 14/06/2018 10.1016/j.gene.2018.06.035 29908285
PGP000510 8 2 Kurniansyah N Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups. Nat Commun 02/06/2023 10.1038/s41467-023-38990-9 37268629
PGP000135 7 8 Jia G Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers. JNCI Cancer Spectr 12/03/2020 10.1093/jncics/pkaa021 32596635
PGP000111 2 2 Smith MP Evaluation of a Genetic Risk Score for Diagnosis of Psoriatic Arthritis. J Psoriasis Psoriatic Arthritis 04/03/2020 10.1177/2475530320910814 32462110
PGP000015 1 1 Chouraki V Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease. J Alzheimers Dis 01/06/2016 10.3233/JAD-150749 27340842
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