Publications

PGS Publication/Study (PGP) ID PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000095 2 2 Meisner A Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality. Am J Hum Genet 07/26/2020 10.1016/j.ajhg.2020.07.002 32758451
PGP000055 3 3 Fritsche LG 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. PLoS Genet 06/13/2019 10.1371/journal.pgen.1008202 31194742
PGP000028 1 1 Abraham G Accurate and robust genomic prediction of celiac disease using statistical learning. PLoS Genet 02/13/2014 10.1371/journal.pgen.1004137 24550740
PGP000029 2 3 Abraham G Genomic prediction of celiac disease targeting HLA-positive individuals. Genome Med 07/16/2015 10.1186/s13073-015-0196-5 26244058
PGP000068 8 8 Cai N Minimal phenotyping yields genome-wide association signals of low specificity for major depression. Nat Genet 03/30/2020 10.1038/s41588-020-0594-5 32231276
PGP000072 1 1 Smith T The added value of genetic information in colorectal cancer risk prediction models: development and evaluation in the UK Biobank prospective cohort study. Br J Cancer 10/16/2018 10.1038/s41416-018-0282-8 30323197
PGP000004 1 2 Tada H Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history. Eur Heart J 09/20/2015 10.1093/eurheartj/ehv462 26392438
PGP000005 1 2 Abraham G Genomic prediction of coronary heart disease. Eur Heart J 09/21/2016 10.1093/eurheartj/ehw450 27655226
PGP000069 1 1 Hsu L A model to determine colorectal cancer risk using common genetic susceptibility loci. Gastroenterology 02/13/2015 10.1053/j.gastro.2015.02.010 25683114
PGP000070 1 1 Ibáñez-Sanz G Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study. Sci Rep 02/24/2017 10.1038/srep43263 28233817
PGP000071 1 1 Jeon J Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors. Gastroenterology 02/17/2018 10.1053/j.gastro.2018.02.021 29458155
PGP000088 5 7 Zhang H Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet 05/18/2020 10.1038/s41588-020-0609-2 32424353
PGP000073 1 1 Weigl K Genetic Risk Score Is Associated With Prevalence of Advanced Neoplasms in a Colorectal Cancer Screening Population. Gastroenterology 03/21/2018 10.1053/j.gastro.2018.03.030 29574091
PGP000075 11 11 Shi Z Systematic evaluation of cancer-specific genetic risk score for 11 types of cancer in The Cancer Genome Atlas and Electronic Medical Records and Genomics cohorts. Cancer Med 04/09/2019 10.1002/cam4.2143 30968590
PGP000058 0 1 Huynh-Le M Polygenic hazard score predicts aggressive and fatal prostate cancer in multi-ethnic populations medRxivPre 11/19/2019 10.1101/19012237
PGP000030 1 1 Klarin D Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease. Nat Genet 11/01/2019 10.1038/s41588-019-0519-3 31676865
PGP000031 1 1 Pashayan N Reducing overdiagnosis by polygenic risk-stratified screening: findings from the Finnish section of the ERSPC. Br J Cancer 08/20/2015 10.1038/bjc.2015.289 26291059
PGP000032 0 1 Pashayan N Implications of polygenic risk-stratified screening for prostate cancer on overdiagnosis. Genet Med 01/08/2015 10.1038/gim.2014.192 25569441
PGP000033 4 7 Kuchenbaecker KB Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers. J Natl Cancer Inst 07/01/2017 10.1093/jnci/djw302 28376175
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 04/27/2017 10.1200/JCO.2016.69.4935 28448241
PGP000096 1 1 Chami N The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population. PLoS Med 07/21/2020 10.1371/journal.pmed.1003196 32692746
PGP000098 1 1 Grove J Identification of common genetic risk variants for autism spectrum disorder. Nat Genet 02/25/2019 10.1038/s41588-019-0344-8 30804558
PGP000103 1 1 Maukonen M Genetic Associations of Chronotype in the Finnish General Population. J Biol Rhythms 06/24/2020 10.1177/0748730420935328 32579418
PGP000104 1 1 Koyama S Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease. Nat Genet 10/05/2020 10.1038/s41588-020-0705-3 33020668
PGP000105 1 1 Kloosterman M Genetic risk and atrial fibrillation in patients with heart failure. Eur J Heart Fail 01/09/2020 10.1002/ejhf.1735 31919934
PGP000035 1 1 Wen W Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry. Breast Cancer Res 12/08/2016 10.1186/s13058-016-0786-1 27931260
PGP000036 1 1 Zhang X Addition of a polygenic risk score, mammographic density, and endogenous hormones to existing breast cancer risk prediction models: A nested case-control study. PLoS Med 09/04/2018 10.1371/journal.pmed.1002644 30180161
PGP000037 1 1 Lakeman IMM Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families. J Med Genet 06/11/2019 10.1136/jmedgenet-2019-106072 31186341
PGP000079 1 1 Kathiresan S Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med 03/01/2008 10.1056/nejmoa0706728 18354102
PGS000080 1 1 Coleman JRI Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank. Mol Psychiatry 01/23/2020 10.1038/s41380-019-0546-6 31969693
PGP000009 1 1 Paquette M Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia. J Clin Lipidol 04/06/2017 10.1016/j.jacl.2017.03.019 28456682
PGP000010 1 1 Läll K Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores. Genet Med 08/11/2016 10.1038/gim.2016.103 27513194
PGP000097 3 3 Flynn E Sex-specific genetic effects across biomarkers. Eur J Hum Genet 09/01/2020 10.1038/s41431-020-00712-w 32873964
PGP000011 1 1 Oram RA A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care 11/17/2015 10.2337/dc15-1111 26577414
PGP000041 1 1 Paul KC Association of Polygenic Risk Score With Cognitive Decline and Motor Progression in Parkinson Disease. JAMA Neurol 03/01/2018 10.1001/jamaneurol.2017.4206 29340614
PGP000076 0 1 Khera AV Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med 11/13/2016 10.1056/NEJMoa1605086 27959714
PGP000077 0 1 Timmerman N Family history and polygenic risk of cardiovascular disease: independent factors associated with secondary cardiovascular manifestations in patients undergoing carotid endarterectomy medRxivPre 09/18/2019 10.1101/19006718
PGP000018 2 2 Shieh Y Breast cancer risk prediction using a clinical risk model and polygenic risk score. Breast Cancer Res Treat 08/26/2016 10.1007/s10549-016-3953-2 27565998
PGP000106 1 1 Law MH Multiplex melanoma families are enriched for polygenic risk. Hum Mol Genet 10/01/2020 10.1093/hmg/ddaa156 32716505
PGP000099 1 1 Reid S High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus. Ann Rheum Dis 12/11/2019 10.1136/annrheumdis-2019-216227 31826855
PGP000108 0 1 Hindy G Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease. Arterioscler Thromb Vasc Biol 09/22/2020 10.1161/atvbaha.120.314856 32957805
PGP000081 6 6 Knevel R Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis. Sci Transl Med 05/01/2020 10.1126/scitranslmed.aay1548 32461333
PGP000001 3 3 Mavaddat N Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst 04/08/2015 10.1093/jnci/djv036 25855707
PGP000002 6 9 Mavaddat N Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. Am J Hum Genet 12/13/2018 10.1016/j.ajhg.2018.11.002 30554720
PGP000078 29 27 Vuckovic D The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 09/01/2020 10.1016/j.cell.2020.08.008 32888494
PGP000074 1 1 Xin J Evaluating the effect of multiple genetic risk score models on colorectal cancer risk prediction. Gene 06/14/2018 10.1016/j.gene.2018.06.035 29908285
PGP000016 1 1 Desikan RS Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. PLoS Med 03/21/2017 10.1371/journal.pmed.1002258 28323831
PGP000017 1 1 Khera AV Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood. Cell 04/01/2019 10.1016/j.cell.2019.03.028 31002795
PGP000019 1 1 Schumacher FR Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. Nat Genet 06/11/2018 10.1038/s41588-018-0142-8 29892016
PGP000022 1 1 Weng LC Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation. Circulation 11/12/2017 10.1161/CIRCULATIONAHA.117.031431 29129827
PGP000100 5 5 Mars N Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers. Nat Med 04/07/2020 10.1038/s41591-020-0800-0 32273609
PGP000109 0 4 Kramer I Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. Am J Hum Genet 10/05/2020 10.1016/j.ajhg.2020.09.001 33022221
PGP000091 0 1 Ferrat LA A combined risk score enhances prediction of type 1 diabetes among susceptible children. Nat Med 08/07/2020 10.1038/s41591-020-0930-4 32770166
PGP000090 1 2 Wang M Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 08/01/2020 10.1016/j.jacc.2020.06.024 32762905
PGP000107 1 1 Trinder M Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia. Circ Genom Precis Med 08/13/2020 10.1161/circgen.120.002919 33079599
PGP000082 1 1 Tikkanen E Genetic risk prediction and a 2-stage risk screening strategy for coronary heart disease. Arterioscler Thromb Vasc Biol 04/18/2013 10.1161/atvbaha.112.301120 23599444
PGP000003 1 1 Mega JL Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials. Lancet 03/04/2015 10.1016/S0140-6736(14)61730-X 25748612
PGP000101 1 1 Zhang Q Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture. Nat Commun 09/23/2020 10.1038/s41467-020-18534-1 32968074
PGP000092 19 19 Xie T Genetic Risk Scores for Complex Disease Traits in Youth. Circ Genom Precis Med 06/11/2020 10.1161/circgen.119.002775 32527150
PGP000083 0 4 Dikilitas O Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups. Am J Hum Genet 05/01/2020 10.1016/j.ajhg.2020.04.002 32386537
PGP000093 1 1 Sharp SA A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care. Aliment Pharmacol Ther 08/13/2020 10.1111/apt.15826 32790217
PGP000084 6 6 Barr PB Using polygenic scores for identifying individuals at increased risk of substance use disorders in clinical and population samples. Transl Psychiatry 06/18/2020 10.1038/s41398-020-00865-8 32555147
PGP000110 1 1 Bossini-Castillo L Genomic Risk Score impact on susceptibility to systemic sclerosis. Ann Rheum Dis 10/01/2020 10.1136/annrheumdis-2020-218558 33004331
PGP000111 2 2 Smith MP Evaluation of a Genetic Risk Score for Diagnosis of Psoriatic Arthritis. J Psoriasis Psoriatic Arthritis 03/04/2020 10.1177/2475530320910814 32462110
PGP000020 3 3 Vassy JL Polygenic type 2 diabetes prediction at the limit of common variant detection. Diabetes 02/11/2014 10.2337/db13-1663 24520119
PGP000021 1 1 Song M Longitudinal Analysis of Genetic Susceptibility and BMI Throughout Adult Life. Diabetes 12/06/2017 10.2337/db17-1156 29212779
PGP000094 1 1 Shieh Y A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women. J Natl Cancer Inst 06/01/2020 10.1093/jnci/djz174 31553449
PGP000044 1 1 Hajek C Coronary Heart Disease Genetic Risk Score Predicts Cardiovascular Disease Risk in Men, Not Women. Circ Genom Precis Med 10/01/2018 10.1161/CIRCGEN.118.002324 30354305
PGP000045 4 4 Johnson L An Examination of the Relationship between Lipid Levels and Associated Genetic Markers across Racial/Ethnic Populations in the Multi-Ethnic Study of Atherosclerosis. PLoS One 05/07/2015 10.1371/journal.pone.0126361 25951326
PGP000006 5 5 Khera AV Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet 08/13/2018 10.1038/s41588-018-0183-z 30104762
PGP000023 1 0 Mahajan A Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet 10/08/2018 10.1038/s41588-018-0241-6 30297969
PGP000024 0 1 Udler MS Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine. Endocr Rev 12/01/2019 10.1210/er.2019-00088 31322649
PGP000025 1 1 Belsky DW Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study. Lancet Respir Med 06/28/2013 10.1016/S2213-2600(13)70101-2 24429243
PGP000008 0 2 Wünnemann F Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians. Circ Genom Precis Med 06/11/2019 10.1161/CIRCGEN.119.002481 31184202
PGP000026 1 1 Rutten-Jacobs LC Genetic risk, incident stroke, and the benefits of adhering to a healthy lifestyle: cohort study of 306 473 UK Biobank participants. BMJ 10/24/2018 10.1136/bmj.k4168 30355576
PGP000027 1 2 Abraham G Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke. Nat Commun 12/20/2019 10.1038/s41467-019-13848-1 31862893
PGP000066 1 1 Craig JE Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet 01/20/2020 10.1038/s41588-019-0556-y 31959993
PGP000038 0 1 Patel KA Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes 04/05/2016 10.2337/db15-1690 27207547
PGP000039 2 2 Tosto G Polygenic risk scores in familial Alzheimer disease. Neurology 02/17/2017 10.1212/WNL.0000000000003734 28213371
PGP000040 1 1 Schmit SL Novel Common Genetic Susceptibility Loci for Colorectal Cancer. J Natl Cancer Inst 02/01/2019 10.1093/jnci/djy099 29917119
PGP000042 1 1 Natarajan P Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation 02/21/2017 10.1161/CIRCULATIONAHA.116.024436 28223407
PGP000043 1 1 Morieri ML Genetic Tools for Coronary Risk Assessment in Type 2 Diabetes: A Cohort Study From the ACCORD Clinical Trial. Diabetes Care 09/27/2018 10.2337/dc18-0709 30262460
PGP000007 1 3 Inouye M Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention. J Am Coll Cardiol 10/01/2018 10.1016/j.jacc.2018.07.079 30309464
PGP000012 1 1 Perry DJ Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling. Sci Rep 03/14/2018 10.1038/s41598-018-22574-5 29540798
PGP000013 1 2 Onengut-Gumuscu S Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score. Diabetes Care 01/18/2019 10.2337/dc18-1727 30659077
PGP000046 3 3 Kuchenbaecker K The transferability of lipid loci across African, Asian and European cohorts. Nat Commun 09/24/2019 10.1038/s41467-019-12026-7 31551420
PGP000047 1 1 Seibert TM Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts. BMJ 01/10/2018 10.1136/bmj.j5757 29321194
PGP000048 2 2 Yang X Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study. J Med Genet 05/05/2018 10.1136/jmedgenet-2018-105313 29730597
PGP000085 3 3 Liyanarachchi S Assessing thyroid cancer risk using polygenic risk scores. Proc Natl Acad Sci U S A 03/04/2020 10.1073/pnas.1919976117 32132206
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 02/01/2019 10.2337/dc18-1785 30655379
PGP000015 1 1 Chouraki V Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease. J Alzheimers Dis 06/01/2016 10.3233/JAD-150749 27340842
PGP000062 1 1 Qi Q Genetics of Type 2 Diabetes in U.S. Hispanic/Latino Individuals: Results From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Diabetes 03/02/2017 10.2337/db16-1150 28254843
PGP000086 1 1 Shrine N New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. Nat Genet 02/25/2019 10.1038/s41588-018-0321-7 30804560
PGP000049 1 1 Dai J Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. Lancet Respir Med 07/17/2019 10.1016/S2213-2600(19)30144-4 31326317
PGP000050 17 17 Graff RE Cross-Cancer Evaluation of Polygenic Risk Scores for 17 Cancer Types in Two Large Cohorts bioRxivPre 01/19/2020 10.1101/2020.01.18.911578
PGP000051 26 26 Xu Y Learning polygenic scores for human blood cell traits bioRxivPre 02/18/2020 10.1101/2020.02.17.952788
PGP000053 1 1 Trinder M Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease. JAMA Cardiol 02/12/2020 10.1001/jamacardio.2019.5954 32049305
PGP000054 2 2 Elliott J Predictive Accuracy of a Polygenic Risk Score-Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease. JAMA 02/01/2020 10.1001/jama.2019.22241 32068818
PGP000056 2 2 Ho-Le TP Prediction of Bone Mineral Density and Fragility Fracture by Genetic Profiling. J Bone Miner Res 10/26/2016 10.1002/jbmr.2998 27649491
PGP000052 4 4 Cánovas R Genomic risk scores for juvenile idiopathic arthritis and its subtypes. Ann Rheum Dis 09/04/2020 10.1136/annrheumdis-2020-217421 32887683
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 11/26/2019 10.1186/s13073-019-0682-2 31771638
PGP000059 1 1 Ibanez L Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels. BMC Neurol 11/15/2017 10.1186/s12883-017-0978-z 29141588
PGP000060 0 1 Khera AV Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation 03/01/2019 10.1161/circulationaha.118.035658 30586733
PGP000089 79 79 Folkersen L Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals. Nat Metab 10/16/2020 10.1038/s42255-020-00287-2 33067605
PGP000061 1 1 MacGregor S Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nat Genet 07/27/2018 10.1038/s41588-018-0176-y 30054594
PGP000063 1 1 Tin A Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Genet 10/02/2019 10.1038/s41588-019-0504-x 31578528
PGP000064 6 6 Wheeler E Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS Med 09/12/2017 10.1371/journal.pmed.1002383 28898252
PGP000065 4 4 Zheutlin AB Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems. Am J Psychiatry 08/16/2019 10.1176/appi.ajp.2019.18091085 31416338
PGP000087 1 1 Pihlstrøm L A cumulative genetic risk score predicts progression in Parkinson's disease. Mov Disord 02/08/2016 10.1002/mds.26505 26853697