Table 1.
Main Text Sections | Methods | Modeling Assumptions | Estimation Algorithms | Trait Types | Software | Weblink | Comments | References |
---|---|---|---|---|---|---|---|---|
Modeling assumptions | BVSR | MCMC | Quantitative | GEMMA | https://github.com/genetics-statistics/GEMMA | Fast for large-scale data; Also useful for phenotype prediction and PRS construction; supports Mac and Linux platforms | [32], [33] | |
BSLMM | MCMC | [22] | ||||||
LMM/REML | REML | Quantitative | GEMMA/GCTA | https://github.com/genetics-statistics/GEMMAhttp://cnsgenomics.com/software/gcta/#Overview | Also useful for SNP association tests with LMM; supports Windows, Mac and Linux platforms | [12] | ||
LDAK | REML | Quantitative | LDAK | http://dougspeed.com/ldak/ | Over 30 functions, importantly, SNP heritability estimation and SNP-based prediction models construction, supported for Mac and Linux platforms | [41], [42] | ||
DPR | MCMC/VB | Quantitative | DPR | https://github.com/biostatpzeng/DPR | Mainly for robust genetic prediction and PRS construction of complex traits; supports Mac and Linux platforms | [51] | ||
Case-control study | HE/PCGC | MoM | Binary | PCGC | https://data.broadinstitute.org/alkesgroup/PCGC/ | Mitigate biases in REML heritability estimation for ascertained case-control studies; supports Linux platform | [58] | |
Count data | PQLseq | MCMC | Binary/Count | PQLseq | https://cran.r-project.org/web/packages/PQLseq/index.html | For heritability estimation of count data in RNAseq and Bisulfite seq studies; supports Windows, Mac and Linux platforms | [71] | |
Summary statistics | LDSC | MoM | Quantitative/Binary | LDSC | https://github.com/bulik/ldsc | A command tool for estimating heritability and genetic correlation using GWAS summary statistics | [72] | |
MQS | MoM | Quantitative/Binary | GEMMA | https://github.com/genetics-statistics/GEMMA | A general statistical framework for SNP heritability estimation using summary statistics; supports Mac and Linux platforms | [59] | ||
SumHer | REML | Quantitative/Binary | SumHer | http://dougspeed.com/sumher/ | Heritability estimation using summary statistics under the LDAK assumption; supports Linux platform | [74] |
Table lists 10 methods described in the main text, with the first seven methods for analyzing individual level data and last three methods for analyzing summary statistics. Columns contain the main text section in which the method is described (1st column), method name (2nd column), modeling assumption on the SNP effect sizes (3rd column), estimation algorithms (4th column), phenotype type (5th column), implemented software (6th column), web link (7th column), additional comments (8th column) and references (9th column). In the 3rd column, denotes a point mass at zero; N(.,.) denotes a normal distribution with the mean and variance parameters; DP denotes a Dirichlet process. In the 4th column, MCMC represents Markov chain Monte Carlo method, VB represents variational Bayesian, REML represents restricted maximum likelihood method, and MoM represents method of moments. In the 8th column, PRS is short for polygenic risk scores.