Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000024 0 1 Udler MS Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine. Endocr Rev 01/12/2019 10.1210/er.2019-00088 31322649
PGP000214 4 5 Aksit MA Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits. J Clin Endocrinol Metab 01/05/2020 10.1210/clinem/dgz102 31697830
PGP000725 0 2 Busch AS Polygenic Scores for Adult Testosterone and SHBG Levels Are Associated With Reproductive Hormone Levels in Male Infants. J Clin Endocrinol Metab 01/08/2024 10.1210/clinem/dgae104 38412310
PGP000676 1 1 Pozdeyev N Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant. J Clin Endocrinol Metab 01/01/2024 10.1210/clinem/dgad530 37683082
PGP000634 0 1 Chen JX Associations of Clinical Risk Factors and Novel Biomarkers With Age at Onset of Type 2 Diabetes. J Clin Endocrinol Metab 01/12/2023 10.1210/clinem/dgad422 37453087
PGP000610 0 1 Wang JR Association of Polygenic Score With Tumor Molecular Subtypes in Papillary Thyroid Carcinoma. J Clin Endocrinol Metab 01/12/2023 10.1210/clinem/dgad407 37453101
PGP000318 1 1 Gurung RL Genetic risk score for plasma uric acid levels is associated with early rapid kidney function decline in type 2 diabetes. J Clin Endocrinol Metab 01/04/2022 10.1210/clinem/dgac192 35363857
PGP000163 1 1 Lu T A polygenic risk score to predict future adult short stature amongst children. J Clin Endocrinol Metab 31/03/2021 10.1210/clinem/dgab215 33788949
PGP000744 1 1 Olowofela AS Association of Genetic Predisposition to Inflammation With Cancer-Related Cognitive Impairment and Fatigue in Women Who Received Chemotherapy for Nonmetastatic Breast Cancer. JCO Precis Oncol 16/09/2025 10.1200/po-25-00303 40956996
PGP000687 0 1 Lee PH Using a Polygenic Risk Score to Improve the Risk Prediction of Non-Small Cell Lung Cancer in Taiwan. JCO Precis Oncol 02/10/2024 10.1200/po.24.00236 39348659
PGP000635 0 1 Im C Polygenic Risk and Chemotherapy-Related Subsequent Malignancies in Childhood Cancer Survivors: A Childhood Cancer Survivor Study and St Jude Lifetime Cohort Study Report. J Clin Oncol 17/07/2023 10.1200/jco.23.00428 37459583
PGP000727 0 1 Mars N Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women. J Clin Oncol 29/02/2024 10.1200/jco.23.00295 38422475
PGP000572 0 1 Lopes Cardozo JMN Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival. J Clin Oncol 23/01/2023 10.1200/jco.22.01978 36689693
PGP000428 1 1 Nyberg T CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer. J Clin Oncol 09/12/2022 10.1200/jco.22.01453 36493335
PGP000034 1 4 Lecarpentier J Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. J Clin Oncol 27/04/2017 10.1200/JCO.2016.69.4935 28448241
PGP000612 3 3 Gao C Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score. J Clin Oncol 08/06/2021 10.1200/jco.20.01992 34101481
PGP000665 9 14 Moreno-Grau S Polygenic risk score portability for common diseases across genetically diverse populations. Human Genomics 02/09/2024 10.1186/s40246-024-00664-y 39218908
PGP000503 6 6 Sofer T A polygenic risk score for Alzheimer's disease constructed using APOE-region variants has stronger association than APOE alleles with mild cognitive impairment in Hispanic/Latino adults in the U.S. Alzheimers Res Ther 30/08/2023 10.1186/s13195-023-01298-3 37649099
PGP000527 3 3 Green RE Investigating associations between blood metabolites, later life brain imaging measures, and genetic risk for Alzheimer's disease. Alzheimers Res Ther 22/02/2023 10.1186/s13195-023-01184-y 36814324
PGP000282 1 1 Wu Q An early prediction model for gestational diabetes mellitus based on genetic variants and clinical characteristics in China. Diabetol Metab Syndr 24/01/2022 10.1186/s13098-022-00788-y 35073990
PGP000188 0 1 Tangtanatakul P Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population. Arthritis Res Ther 08/08/2020 10.1186/s13075-020-02276-y 32771030
PGP000783 1 1 Chen H Optimizing colorectal cancer screening through polygenic risk score-based risk stratification: evidence from a population-based cohort and screening trial. Genome Med 19/03/2026 10.1186/s13073-026-01623-z 41851747
PGP000760 6 6 Saklatvala JR Genetic liability to psoriasis predicts severe disease outcomes. Genome Med 17/12/2025 10.1186/s13073-025-01561-2 41408349
PGP000746 1 1 Sun D Impact of genetic risk and lifestyles on cardiovascular disease-free and total life expectancy: a cohort study. Genome Med 22/07/2025 10.1186/s13073-025-01487-9 40696436
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
PGP000631 1 1 Chikowore T Variability of polygenic prediction for body mass index in Africa. Genome Med 30/05/2024 10.1186/s13073-024-01348-x 38816834
PGP000619 3 3 Mandla R Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study. Genome Med 26/04/2024 10.1186/s13073-024-01337-0 38671457
PGP000480 1 1 Wang H Identification of specific susceptibility loci for the early-onset colorectal cancer. Genome Med 03/03/2023 10.1186/s13073-023-01163-w 36869385
PGP000414 1 1 Xin J Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations. Genome Med 24/01/2023 10.1186/s13073-023-01156-9 36694225
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
PGP000154 0 1 Lu T Improved prediction of fracture risk leveraging a genome-wide polygenic risk score. Genome Med 03/02/2021 10.1186/s13073-021-00838-6 33536041
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
PGP000057 0 3 Homburger JR Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores. Genome Med 26/11/2019 10.1186/s13073-019-0682-2 31771638
PGP000029 2 3 Abraham G Genomic prediction of celiac disease targeting HLA-positive individuals. Genome Med 16/07/2015 10.1186/s13073-015-0196-5 26244058
PGP000366 4 4 Kanoni S Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biol 27/12/2022 10.1186/s13059-022-02837-1 36575460
PGP000373 0 3 Kim MS Testing the generalizability of ancestry-specific polygenic risk scores to predict prostate cancer in sub-Saharan Africa. Genome Biol 13/09/2022 10.1186/s13059-022-02766-z 36100952
PGP000389 0 1 Giardiello D PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients. Breast Cancer Res 21/10/2022 10.1186/s13058-022-01567-3 36271417
PGP000248 0 2 Liou L Genomic risk prediction of coronary artery disease in women with breast cancer: a prospective cohort study. Breast Cancer Res 30/09/2021 10.1186/s13058-021-01465-0 34593009
PGP000035 1 1 Wen W Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry. Breast Cancer Res 08/12/2016 10.1186/s13058-016-0786-1 27931260
PGP000431 5 5 Ko CL Genome-wide association study reveals ethnicity-specific SNPs associated with ankylosing spondylitis in the Taiwanese population. J Transl Med 12/12/2022 10.1186/s12967-022-03701-3 36510243
PGP000406 0 1 Gandhi GD Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank. J Transl Med 03/11/2022 10.1186/s12967-022-03697-w 36329474
PGP000617 1 1 Yun JS Polygenic risk for type 2 diabetes, lifestyle, metabolic health, and cardiovascular disease: a prospective UK Biobank study. Cardiovasc Diabetol 14/07/2022 10.1186/s12933-022-01560-2 35836215
PGP000716 0 4 Ying S Polygenic risk for triglyceride levels in the presence of a high impact rare variant. BMC Med Genomics 08/11/2023 10.1186/s12920-023-01717-2 37940981
PGP000482 0 1 Hassanin E Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence. BMC Med Genomics 05/03/2023 10.1186/s12920-023-01469-z 36872334
PGP000797 1 1 Yang R A low-inflammatory diet is associated with a lower incidence of diabetes: role of diabetes-related genetic risk. BMC Med 05/12/2023 10.1186/s12916-023-03190-1 38049803
PGP000792 1 1 Tang L The association between telomere length and non-alcoholic fatty liver disease: a prospective study. BMC Med 09/11/2023 10.1186/s12916-023-03136-7 37940980
PGP000499 1 1 Zhang Z Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population. BMC Med 19/04/2023 10.1186/s12916-023-02844-4 37076872
PGP000497 1 1 Gibson MJ Identifying the potential causal role of insomnia symptoms on 11,409 health-related outcomes: a phenome-wide Mendelian randomisation analysis in UK Biobank. BMC Med 03/04/2023 10.1186/s12916-023-02832-8 37013595
PGP000484 1 1 Zhang J Associations of risk factor burden and genetic predisposition with the 10-year risk of atrial fibrillation: observations from a large prospective study of 348,904 participants. BMC Med 08/03/2023 10.1186/s12916-023-02798-7 36882748
PGP000570 1 1 Li D Genetic susceptibility and lifestyle modify the association of long-term air pollution exposure on major depressive disorder: a prospective study in UK Biobank. BMC Med 21/02/2023 10.1186/s12916-023-02783-0 36810050
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