Allyse MA, Robinson DH, Ferber MJ, Sharp RR (2018) Direct-to-consumer testing 2.0: emerging models of direct-to-consumer genetic testing. Mayo Clin Proc 93:113–120

Article  PubMed  Google Scholar 

Bilkey GA et al (2019) Genomic testing for human health and disease across the life cycle: applications and ethical, legal, and social challenges. Front Public Health 7:40

Article  PubMed  PubMed Central  Google Scholar 

Buse A (1982) The likelihood ratio, wald, and lagrange multiplier tests: an expository note. Am Stat 36:153–157

Google Scholar 

Bycroft C et al (2018) The UK Biobank resource with deep phenotyping and genomic data. Nature 562:203–209

Article  CAS  PubMed  PubMed Central  Google Scholar 

Choi SW, Mak TSH, O’Reilly PF (2020) A guide to performing polygenic risk score analyses. Nat Protoc 15:2759

Article  CAS  PubMed  PubMed Central  Google Scholar 

DeLong ER, DeLong DM, Clarke-Pearson DL (1988) Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach. Biometrics 44:837–845

Article  CAS  PubMed  Google Scholar 

Demler OV, Pencina MJ, D’Agostino RB Sr (2011) Equivalence of improvement in area under ROC curve and linear discriminant analysis coefficient under assumption of normality. Stat Med 30:1410–1418

Article  PubMed  Google Scholar 

Demler OV, Pencina MJ, D’Agostino RB Sr (2012) Misuse of DeLong test to compare AUCs for nested models. Stat Med 31:2577–2587

Article  PubMed  PubMed Central  Google Scholar 

Ding Y et al (2022) Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification. Nat Genet 54:30–39

Article  CAS  PubMed  Google Scholar 

Frerichs F, Dingemans KP, Brinkman K (2002) Cardiomyopathy with mitochondrial damage associated with nucleoside reverse-transcriptase inhibitors. N Engl J Med 347:1895–1896

Article  PubMed  Google Scholar 

Fry A et al (2017) Comparison of sociodemographic and health-related characteristics of UK Biobank participants with those of the general population. Am J Epidemiol 186:1026–1034

Article  PubMed  PubMed Central  Google Scholar 

Gibson G (2009) analization and the origin of complex disease. Nat Rev Genet 10:134–140

Article  CAS  PubMed  Google Scholar 

Heller G, Seshan VE, Moskowitz CS, Gönen M (2017) Inference for the difference in the area under the ROC curve derived from nested binary regression models. Biostatistics 18:260–274

PubMed  Google Scholar 

Hoeffding W (1948) A class of statistics with asymptotically normal distribution. Breakthroughs in statistics: Foundations and basic theory, 308–334

Article  Google Scholar 

Ishigaki K et al (2020) Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet 52:669–679

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khera AV et al (2018) Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet 50:1219–1224

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lannelongue L, Grealey J, Inouye M (2021) Green algorithms: quantifying the carbon footprint of computation. Adv Sci 8:2100707

Article  Google Scholar 

Lee SH, Wray NR, Goddard ME, Visscher PM (2011) Estimating missing heritability for disease from genome-wide association studies. Am J Hum Genetics 88:294–305

Article  Google Scholar 

Lee SH, Goddard ME, Wray NR, Visscher PM (2012) A better coefficient of determination for genetic profile analysis. Genet Epidemiol 36:214–224

Article  PubMed  Google Scholar 

Lewis CM, Vassos E (2020) Polygenic risk scores: from research tools to clinical instruments. Genom Med 12:1–11

Article  Google Scholar 

Liu H, Lang B (2019) Machine learning and deep learning methods for intrusion detection systems: a survey. Appl Sci 9:4396

Article  Google Scholar 

Momin MM, Lee S, Wray NR, Lee SH (2023a) Significance tests for R2 of out-of-sample prediction using polygenic scores. Am J Hum Genetics 110:349–358

Article  CAS  Google Scholar 

Momin MM et al (2023b) A method for an unbiased estimate of cross-ancestry genetic correlation using individual-level data. Nat Commun 14:722

Article  CAS  PubMed  PubMed Central  Google Scholar 

Olkin I, Finn JD (1995) Correlations redux. Psychol Bull 118:155

Article  Google Scholar 

Plomin R, Haworth C, Davis OS (2009) Common disorders are quantitative traits. Nat Rev Genet 10:872–878

Article  CAS  PubMed  Google Scholar 

Privé F, Vilhjálmsson BJ, Aschard H, Blum MG (2019) Making the most of clumping and thresholding for polygenic scores. Am J Hum Genetics 105:1213–1221

Article  Google Scholar 

Purcell S et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genetics 81:559–575

Article  CAS  Google Scholar 

Purcell SM et al (2009) Common polygenic variation contributes to risk of schizophrenia that overlaps with bipolar disorder. Nature 460:748

Article  CAS  PubMed  Google Scholar 

Robin X et al (2011) pROC: an open-source package for R and S+ to analyze and compare ROC curves. BMC Bioinform 12:1–8

Article  Google Scholar 

Schork NJ (1997) Genetics of complex disease: approaches, problems, and solutions. Am J Respir Crit Care Med 156:S103–S109

Article  CAS  PubMed  Google Scholar 

Sun X, Xu W (2014) Fast implementation of DeLong’s algorithm for comparing the areas under correlated receiver operating characteristic curves. IEEE Signal Process Lett 21:1389–1393

Article  Google Scholar 

Suzuki K et al (2019) Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. Nat Genet 51:379–386

Article  CAS  PubMed  Google Scholar 

Torkamani A, Wineinger NE, Topol EJ (2018) The personal and clinical utility of polygenic risk scores. Nat Rev Genet 19:581–590

Article  CAS  PubMed  Google Scholar 

Uffelmann E et al (2021) Genome-wide association studies. Nat Rev Methods Prim 1:59

Article  CAS  Google Scholar 

Wand H et al (2021) Improving reporting standards for polygenic scores in risk prediction studies. Nature 591:211–219

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wray NR, Goddard ME, Visscher PM (2007) Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res 17:1520–1528

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wray NR, Yang J, Goddard ME, Visscher PM (2010) The genetic interpretation of area under the ROC curve in genomic profiling. PLoS Genet 6:e1000864