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impute-mm3

Very simple pipeline to perform qc using plink, phase using shapeit2 and impute using minimac3 on SGE cluster, borrowing from [impute-pipe] [https://github.com/CNSGenomics/impute-pipe]

Current limitations

  • Only works with b37 aligned reference sets
  • No strand align yet (snps should be on +/forward strand)
  • No chunking, instead uses multiple threads per chromosome
  • Still experimental - requires testing

Differences from impute-pipe

  • Will automatically use a reference set for phasing if less than 50 individuals
  • Uses minimac3 for imputation
  • Needs shapeit, minimac3, plink2 installed

Instructions

  • Still in testing - don't use for production

Run shell script (./init.sh):

  • init.sh (Make directories)

Submit scripts to cluster (using qsub script.sh) in this order:

  • qc.sh (Filter using plink)
  • map.sh (Extract by chr and fill in genetic distance from map file
  • align.sh (Optional step: remove any SNPs that didn't align with reference)
  • hap.sh (Performing phasing using shapeit2, using reference set if < 50 individuals)
  • impute.sh (Perform imputation using minimac3, convert vcf output to plink2 and do post imputation qc)

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