The GWAS pipeline - detailed process output¶
Each process of the GWAS pipeline emits outputs that are directed to the child processes. Certain outputs are saved and copied to the final results folder.
Those outputs are:
Process group | Process output | subfolder | suffix | Output linkage | Process function |
---|---|---|---|---|---|
QC | gwas_maskingQC | masked bgen v.1.2 files, 8-bit, ref-first | gwas_bgen_siteQC | _maskedQC.bgen _maskedQC.bgen.bgi _maskedQC.sample |
soft link from /work |
QC | gwas_siteQC | siteQC-filtered bgen v.1.2 files, 8-bit, ref-first siteQC-filtered pgen files |
_filtered_final.bgen _filtered_final.bgen.bgi _filtered_final.sample |
soft link from /work | This process performs siteQC on the primary input files: filters for maf and low missingness and performs a differential missingness test between cases and controls, and an HWE test on unrelated controls |
SAIGE | gwas_SAIGE_fit_null_glmm | output from SAIGE step 1 Robject and text files containing the null fit |
gwas_1_fit_null_glmm | .rda .results.txt .varianceRatio.txt |
soft link from /work |
SAIGE | gwas_SAIGE_spa_tests_bgen | per chunk/chr output from SAIGE step 2 (association tests) | gwas_2_spa_tests | .SAIGE.gwas.txt | soft link from /work |
GCTA | gwas_GCTA_sparse_GRM | sparse GRM files | gwas_GCTA_sparse_GRM | soft link from /work | |
GCTA | gwas_GCTA_fit_null_glmm | null GCTA fit | gwas_GCTA_fit_null_glmm | soft link from /work | |
GCTA | gwas_GCTA_spa_tests_pgen | per chunk/chr output from GCTA association tests | gwas_GCTA_spa_tests | .GCTA.gwas.txt | soft link from /work |
plotting | plotting | concatenated GWAS summaries | manhattan and qqplot for GWAS | plotting | _summaries.txt _qqplot.png _manhattan.png |