Towards clinical utility of polygenic risk scores

Whole Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized with Early-Onset Myocardial Infarction

(2019) Amit V. Khera et al.   CIRCULATION

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

(2019) Seth A. Sharp et al.   DIABETES CARE

Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score

(2019) Suna Onengut-Gumuscu et al.   DIABETES CARE

Value of genetic testing in the prevention of coronary heart disease events

(2019) Yrjänä Hynninen et al.   PLoS One

Apparent latent structure within the UK Biobank sample has implications for epidemiological analysis

(2019) Simon Haworth et al.   Nature Communications

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

(2019) Amit V. Khera et al.   CELL

Complex Trait Prediction from Genome Data: Contrasting EBV in Livestock to PRS in Humans

(2019) Naomi R. Wray et al.   GENETICS

On the utilization of polygenic risk scores for therapeutic targeting

(2019) Greg Gibson   PLoS Genetics

Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland

(2019) Sini Kerminen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification

(2019) Kristi Läll et al.   BMC CANCER

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

(2019) Inge M M Lakeman et al.   JOURNAL OF MEDICAL GENETICS

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Genomics of disease risk in globally diverse populations

(2019) Deepti Gurdasani et al.   NATURE REVIEWS GENETICS

Quantifying the impact of genes on body mass index during the obesity epidemic: longitudinal findings from the HUNT Study

(2019) Maria Brandkvist et al.   BMJ-British Medical Journal

A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk

(2018) Maria J. Redondo et al.   DIABETES CARE

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

(2018) Anja Rudolph et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Screening for Prostate Cancer

(2018) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort study

(2018) Sven J van der Lee et al.   LANCET NEUROLOGY

Multi-trait analysis of genome-wide association summary statistics using MTAG

(2018) Patrick Turley et al.   NATURE GENETICS

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

Improving genetic prediction by leveraging genetic correlations among human diseases and traits

(2018) Robert M. Maier et al.   Nature Communications

Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling

(2018) Daniel J. Perry et al.   Scientific Reports

Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts

(2018) Tyler M Seibert et al.   BMJ-British Medical Journal

Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children

(2018) Ezio Bonifacio et al.   PLOS MEDICINE

Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts

(2018) Tyler M Seibert et al.   BMJ-British Medical Journal

Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer

(2018) Nora Pashayan et al.   JAMA Oncology

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Validation of a genetic risk score for Arkansas women of color

(2018) Athena Starlard-Davenport et al.   PLoS One

Polygenic risk score for schizophrenia is more strongly associated with ancestry than with schizophrenia

(2018) David Curtis   PSYCHIATRIC GENETICS

Addition of a polygenic risk score, mammographic density, and endogenous hormones to existing breast cancer risk prediction models: A nested case–control study

(2018) Xuehong Zhang et al.   PLOS MEDICINE

The genetic risk of Alzheimer’s disease beyond APOE ε4: systematic review of Alzheimer’s genetic risk scores

(2018) Hannah Stocker et al.   Translational Psychiatry

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

(2018) Nasim Mavaddat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting polygenic risk of psychiatric disorders

(2018) Alicia R. Martin et al.   BIOLOGICAL PSYCHIATRY

Performance of Single Nucleotide Polymorphisms in Breast Cancer Risk Prediction Models: A Systematic Review and Meta-analysis

(2018) Si Ming Fung et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Polygenic Risk Scoring for Coronary Heart Disease

(2018) Pradeep Natarajan   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

(2018) Michael Inouye et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The role of sex in the genomics of human complex traits

(2018) Ekaterina A. Khramtsova et al.   NATURE REVIEWS GENETICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Polygenic scores via penalized regression on summary statistics

(2017) Timothy Shin Heng Mak et al.   GENETIC EPIDEMIOLOGY

Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia

(2017) Martine Paquette et al.   Journal of Clinical Lipidology

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

(2017) Julie Lecarpentier et al.   JOURNAL OF CLINICAL ONCOLOGY

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Breast Cancer Screening in the Precision Medicine Era: Risk-Based Screening in a Population-Based Trial

(2017) Yiwey Shieh et al.   JNCI-Journal of the National Cancer Institute

Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease

(2017) Valentina Escott-Price et al.   NEUROBIOLOGY OF AGING

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

(2017) Rahul S. Desikan et al.   PLOS MEDICINE

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Breast Cancer Screening in the Precision Medicine Era: Risk-Based Screening in a Population-Based Trial

(2017) Yiwey Shieh et al.   JNCI-Journal of the National Cancer Institute

Comparing distributions of polygenic risk scores of type 2 diabetes and coronary heart disease within different populations

(2017) Sulev Reisberg et al.   PLoS One

Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk EstimatesCLINICAL PERSPECTIVE

(2016) Iftikhar J. Kullo et al.   CIRCULATION

Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank

(2016) Wei Gan et al.   DIABETOLOGIA

Genomic prediction of coronary heart disease

(2016) Gad Abraham et al.   EUROPEAN HEART JOURNAL

Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores

(2016) Kristi Läll et al.   GENETICS IN MEDICINE

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Dissecting the genetics of complex traits using summary association statistics

(2016) Bogdan Pasaniuc et al.   NATURE REVIEWS GENETICS

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common polygenic variation enhances risk prediction for Alzheimer’s disease

(2015) Valentina Escott-Price et al.   BRAIN

Reducing overdiagnosis by polygenic risk-stratified screening: findings from the Finnish section of the ERSPC

(2015) Nora Pashayan et al.   BRITISH JOURNAL OF CANCER

Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry

(2015) G. S. Dite et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Genomic risk prediction of complex human disease and its clinical application

(2015) Gad Abraham et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history

(2015) Hayato Tada et al.   EUROPEAN HEART JOURNAL

Implications of polygenic risk-stratified screening for prostate cancer on overdiagnosis

(2015) Nora Pashayan et al.   GENETICS IN MEDICINE

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

(2015) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

(2015) Jessica L Mega et al.   LANCET

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

(2015) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

(2014) Anubha Mahajan et al.   NATURE GENETICS

Evaluation of Common Type 2 Diabetes Risk Variants in a South Asian Population of Sri Lankan Descent

(2014) Neelam Hassanali et al.   PLoS One

Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies

(2013) Nilanjan Chatterjee et al.   NATURE GENETICS

Power and Predictive Accuracy of Polygenic Risk Scores

(2013) Frank Dudbridge   PLoS Genetics

Comparison of Family History and SNPs for Predicting Risk of Complex Disease

(2012) Chuong B. Do et al.   PLoS Genetics

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

New approaches to population stratification in genome-wide association studies

(2010) Alkes L. Price et al.   NATURE REVIEWS GENETICS

A Unifying Framework for Evaluating the Predictive Power of Genetic Variants Based on the Level of Heritability Explained

(2010) Hon-Cheong So et al.   PLoS Genetics

Consistent Association of Type 2 Diabetes Risk Variants Found in Europeans in Diverse Racial and Ethnic Groups

(2010) Kevin M. Waters et al.   PLoS Genetics

The Genetic Interpretation of Area under the ROC Curve in Genomic Profiling

(2010) Naomi R. Wray et al.   PLoS Genetics

Assessing the Performance of Prediction Models

(2009) Ewout W. Steyerberg et al.   EPIDEMIOLOGY

Sporadic cases are the norm for complex disease

(2009) Jian Yang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk

(2009) David M. Evans et al.   HUMAN MOLECULAR GENETICS

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE