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. 2020 Jun 18;18:1557–1568. doi: 10.1016/j.csbj.2020.06.011

Table 1.

A summary of methods for SNP heritability estimation.

Main Text Sections Methods Modeling Assumptions Estimation Algorithms Trait Types Software Weblink Comments References
Modeling assumptions BVSR βj~πN0,σβ2+1-πδ0 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 βj~πN0,σa2+σb2+1-πN0,σb2 MCMC [22]
LMM/REML βj~N0,σβ2 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 βj~N0,σj2,σj2wjfj1-fj0.75 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 βj~φ=1+πφN0,σφ2,σφ2~G,G~DPH,λ 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 βj~N0,σj2 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 βj~N0,σβ2 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 Eβj=0,σj2=hg2/p MoM Quantitative/Binary LDSC https://github.com/bulik/ldsc A command tool for estimating heritability and genetic correlation using GWAS summary statistics [72]
MQS βj~N0,σj2 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 Eβj=0,Varβjwjfj1-fj0.75 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, δ0 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.