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. 2020 Feb 5;15(2):e0228198. doi: 10.1371/journal.pone.0228198

Table 1. Summary of features of existing R packages for risk prediction.

✓ denotes the presence of the feature and × denotes absence of the feature.

Packages Model building Model validation
Calibration to population incidence Detailed family history Special option for SNP markers Imputation of missing risk-factors Full cohort Two-phase study Imputation of missing risk-factors
riskRegressiona × × × × × ×
predictABELa × × × × × ×
BCRAb c × × × × × ×
BayesMendelb × × × × ×f
rmap × × × × e ×
iCARE b c × d e f

a These packages include some functions for model building (see Section), but those approaches do not demonstrate the key features shown in the above table.

b Capability to use information from multiple data sources, e.g., BCRA and iCARE can use relative risk parameters from cohort or case-control studies and disease incidence and mortality rates from population registries.

c BCRA estimates baseline hazard and calibrates the model to the underlying population incidence rates using distribution of risk-factors from cases in a specific study that may not be representative of the general population. This step is implemented in iCARE using a reference dataset that provides information on the distribution of risk-factors in the general population.

d iCARE includes the special option in which independent SNP markers can be included using published estimates of odds ratios and allele frequencies.

e Inverse probability weighted estimators of model validation statistics are implemented, accounting for bias due to non-random sampling using sampling weights.

f BayesMendel incorporates imputation methods for certain risk-factors (e.g., age), but they do not implement any method of validating risk prediction models. iCARE implements an inbuilt imputation approach to deal with missing risk-factors using a reference risk-factor dataset representative of the underlying population. The standardized model validation methods implemented in iCARE can take advantage of this inbuilt feature to impute missing risk-factors in the validation study.