Table 1 ∣.
Category | Method | Input | Variants for prediction |
Need validation data set |
Tuning parameters | Algorithm | Ref. |
---|---|---|---|---|---|---|---|
Combining approaches | Meta-analysis | Population-specific GWAS and LD | Up to all 1000 Genomes common variants | Optional | Depends on the single-population PRS method | Fixed-effect meta-analysis and a single-population PRS method | 62 |
ShaPRS | Population-specific GWAS and LD | Up to all 1000 Genomes common variants | Optional | Depends on the single-population PRS method | Meta-analysis accounting for heterogeneity between GWAS and a single-population PRS method | 64 | |
MultiPRS | Population-specific GWAS and LD | Up to all 1000 Genomes common variants, depending on the C + T parameters | Yes | C + T parameters and linear combination weights for population-specific PRS | C + T | 67 | |
Joint modelling of two populations | XP-BLUP | GWAS in the auxiliary population; individual-level data for the target population | Genotyped SNPs in the target data set | Yes | P-value threshold for the auxiliary GWAS (optional) | Local FDR for variant selection; restricted maximum likelihood (ReML) for model fitting; best linear unbiased prediction | 71 |
XPASS(+) | GWAS and LD from the auxiliary and target populations | All available variants | No | None | Best linear unbiased prediction and conjugate gradient for solving linear systems | 72 | |
BridgePRS | GWAS and LD from the auxiliary and target populations; individual-level data for the auxiliary population | All available variants | Yes | Ridge shrinkage parameters and linear combination weights for PRS generated under different prior parameters and loci selection criteria | Best linear unbiased prediction | 73 | |
TL-Multi | GWAS and LD from the auxiliary and target populations | HapMap3 | Optional | Regularization parameters in LASSO | Coordinate descent for model fitting | 74 | |
SDPRX | GWAS and LD from the auxiliary and target populations | HapMap3 | Yes | Linear combination weights for population-specific PRS | Markov chain Monte Carlo | 76 | |
Joint modelling of two or more populations | CT-SLEB | Population-specific GWAS and LD | Up to all 1000 Genomes common variants, depending on the C + T parameters | Yes | C + T parameters and parameters in the super learning model (such as LASSO, ridge regression and neural networks) | Two-dimensional C + T; empirical Bayes (for SNP effect estimation); super learning (for combining PRSs generated under different C + T parameters) | 41 |
TL-PRS/MTL-PRS | Population-specific GWAS and LD | HapMap3 | Yes | Learning rate and number of iterations in the gradient descent algorithm | Gradient descent for model fitting | 77 | |
PROSPER | Population-specific GWAS and LD | HapMap3 + MEGA chip array | Yes | Regularization parameters in LASSO, ridge regression and LD matrix estimation; tuning parameters in the ensemble regression | Coordinate descent and super learning (for combining PRSs generated under different tuning parameters) | 78 | |
ME-Bayes SL | Population-specific GWAS and LD | HapMap3 + MEGA chip array | Yes | Parameters in the super learning model (such as linear regression, ridge regression and elastic net) | LDpred2 (for estimating causal SNP proportions and heritability); ME-Bayes (for SNP effect estimation); super learning (for combining PRSs generated under different ME-Bayes parameters) | 79 | |
PRS-CSx(-auto) | Population-specific GWAS and LD | HapMap3 | Optional | The global shrinkage parameter and linear combination weights for population-specific PRS; none for the auto algorithm | Markov chain Monte Carlo | 68 | |
Incorporating information beyond GWAS | XPXP | Population-specific GWAS (for both the target trait and its genetically correlated traits) and LD | All available variants | No | None | Best linear unbiased prediction and conjugate gradient for solving linear systems | 81 |
X-Wing | Population-specific GWAS and LD | HapMap3 | No | None | Scan statistics (for local genetic correlation estimation); Markov chain Monte Carlo (for PRS model fitting); summary statistics based repeated learning (for combining population-specific PRSs) | 82 | |
PolyPred-S+/PolyPred-P+ | Population-specific GWAS and LD; functional annotations | All available variants for PolyFun-pred; HapMap3 for SBayesR and PRS-CS | Yes | Linear combination weights for population-specific PRS | PolyFun + SuSiE (for fine-mapping informed PRS) and Markov chain Monte Carlo (for SBayesR and PRS-CS) | 69 |
C + T, clumping and P-value thresholding; FDR, false discovery rate; GWAS, genome-wide association studies; LD, linkage disequilibrium; PRS, polygenic risk score.