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Merge pull request #3 from danielskatz/patch-1
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ZeyuanSong authored Mar 2, 2021
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Expand Up @@ -45,6 +45,7 @@ The pipeline is implemented in Nextflow, a portable, scalable and parallelizable

## Workflow
Figure 1 depicts the workflow:

1. Input. Required files include VCF files for all 22 chromosomes and a comma-delimited phenotype file including sample id, phenotype and covariates. Optionally, users can provide a file with a list of Single Nucleotide Polymorphisms (SNPs) to compute genome-wide principal components and genetic relationship or provide a kinship matrix for known relations.
2. Quality control. The pipeline removes monomorphic SNPs and variants with percent of missing values above a provided threshold. The cleaned VCF files are then converted into Genome Data Structure (GDS) file format for computationally efficient data storage [@Zheng:2017].
3. Principal component analysis and genetic relationship inference. This is an optional step that uses the PC-AiR and PC-Relate algorithms [@Conomos:2015][@Conomos:2016] to estimate the genetic relationship matrix between study subjects (GRM) and genome-wide principal components (PCs) to adjust for population structure. Users have the option to provide their own PCs as covariates and/or GRM.
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![Figure 1](nf-gwas-pipeline.png)

# Acknowledgements
We also thank for Harold Bae and Aparna Bhutkar for their help.
We thank for Harold Bae and Aparna Bhutkar for their help.

# References

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