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Table 1 List of softwares and resources used in H3AGWAS workflow, softwares are classify by phase of GWAS and task

From: H3AGWAS: a portable workflow for genome wide association studies

Phase

Software/resource

Workflow/task

References

All

PLINK (1.9)

All

[18]

 

Python (3)

All

[9]

 

R (3.6)

Plot and extraction data

[10]

Association testing

GEMMA (0.98.5)

Association testing/heritability/conditional analysis

[12]

 

Fast-LMM (binary version)

Association testing

[11]

 

BOLT-LMM

Association testing/heritability

[13]

 

SAIGE 1.0

Association testing

[16]

 

regenie 3.1.3

Association testing

[17]

 

GCTA : fastGWA

Association testing

[14, 15]

Post-association analysis

GCTA: COJO-slct, simulation, GREML

Fine-mapping/heritability/simulation

[19]

 

MetaSoft

Meta-analyses

[20]

 

GWAMA

Meta-analyses

[21]

 

METAL

Meta-analyses

[22]

 

MTAG

Multi-trait association

[23]

 

LDSC

Heritability

[24]

 

PhenoSim

Simulation

[25]

 

LocusZoom

Annotations

[26]

 

Annovar

Annotations

[27]

Format data

BCFtools

Convert vcf

[28]

 

QCTOOL (v2)

Convert vcf to bgen/bimbam/impute2

[29]

 

CrossMap

Convert positions between genome builds

[30]