Last updated: 2021-06-01

Checks: 2 0

Knit directory: PSYMETAB/

This reproducible R Markdown analysis was created with workflowr (version 1.6.0). The Checks tab describes the reproducibility checks that were applied when the results were created. The Past versions tab lists the development history.


Great! Since the R Markdown file has been committed to the Git repository, you know the exact version of the code that produced these results.

Great! You are using Git for version control. Tracking code development and connecting the code version to the results is critical for reproducibility. The version displayed above was the version of the Git repository at the time these results were generated.

Note that you need to be careful to ensure that all relevant files for the analysis have been committed to Git prior to generating the results (you can use wflow_publish or wflow_git_commit). workflowr only checks the R Markdown file, but you know if there are other scripts or data files that it depends on. Below is the status of the Git repository when the results were generated:


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The following document outlines the procedure to extract genetic data located on the HPC1 servers.

1. Create input file.

  • Text file.
  • One line per SNP.
  • Name of file is not important, but should have some simple description of the SNP list (${snp_list}).

2. Transfer input file to HPC1 server.

  • Connect to HPC1 server via filezilla:
  • host: hpc1.chuv.ch
  • username: je4649
  • password: XXXX
  • port: 22
  • Navigate to /data/sgg2/jenny/projects/PSYMETAB/data/raw/extractions
  • If necessary, create directory for person who made data extraction request (requestor) with the format: FirstnameLastname.
  • Save text file from #1 into the folder: /data/sgg2/jenny/projects/PSYMETAB/data/raw/extractions/${requestor} (Note: to maintain file organization, please maintain only one folder per requestor).

3. Create and run extraction script for “requestor”.

  • Login to HPC1 using PUTTY:
  • hostname: je4649@hpc1.chuv.ch
  • password: XXXX
  • Launch sbatch master script from master as follows: sbatch $projects/PSYMETAB/code/extractions/master_extract.sh (this assumes projects is defined as /data/sgg2/jenny/projects, if not replace $projects with explicit path or define projects before hand, if logged in as je4649, project is automatically defined).
  • Code details:
  • An extraction script template is found here: /data/sgg2/jenny/projects/PSYMETAB/code/extractions/template_extract.sh.
  • The master script (/data/sgg2/jenny/projects/PSYMETAB/code/extractions/master_extract.sh) will automatically do the following:
    • Create a new extraction script for each requestor saved to the name: /data/sgg2/jenny/projects/PSYMETAB/code/extractions/${requestor}.sh.
    • Replace all instances of FirstnameLastname in Template with new “requestor” (e.g. replace Aurelie with FirstnameLastname), there should be four replace instances: (1) SBATCH job-name, (2) folder input, (3) folder ouput, (4) comment at end of file indicating how to launch the script.
    • Run the extraction script for each requestor as an sbatch job.
  • The extraction script will only try to perform the extraction for a given file (i.e. the memory intensive portion of the script) if a folder does not already exists which corresponds to that SNP lists here: /data/sgg2/jenny/projects/PSYMETAB/data/processed/extractions/${resquester}/${snp_list}
  • The data is being extracted from the final QC file: ${QC_dir}/15_final_processing/FULL/PSYMETAB_GWAS.FULL

4. Summary of result files.

  • Results will be saved to the following location: /data/sgg2/jenny/projects/PSYMETAB/data/processed/extractions/${resquester}/${snp_list}.
  • ${snp_list}_rsids.txt: list of rsIDs with empty characters removed (in most cases this should be identical to the input file from #1).
  • ${snp_list}_SNP_HRC_info.txt: info file for each rsID, extracted from HRC list (see HRC website), columns correspond to: #CHROM POS ID REF ALT AC AN AF AC_EXCLUDING_1000G AN_EXCLUDING_1000G AF_EXCLUDING_1000G AA.
  • ${snp_list}_SNP_impute_info.txt: imputation info file for each rsID, extracted from imputed plink data (pvar file), columns correspond to: #CHROM POS ID REF ALT FILTER INFO. See plink2 pvar website for full description of this file. This file should be used if imputation metrics are required.
  • For each chromosome ($chr), extracted from imputed data, there are the following files from extracting the chromosome specific genetic data using PLINK, specifically the raw file description can be found here:
  • ${snp_list}_chr${chr}.txt: list of rsIDs on chr${chr}
  • ${snp_list}_chr${chr}.psam
  • ${snp_list}_chr${chr}.pvar
  • ${snp_list}_chr${chr}.pgen
  • ${snp_list}_chr${chr}.pgen
  • ${snp_list}_chr${chr}.raw
  • ${snp_list}_chr${chr}.log
  • ${snp_list}_extraction.txt: merged genetic data from imputed files.
  • Some SNPs of interest (usually insertions and deletions) were genotyped directly on our custom SNP panel, but were not imputed (HRC reference panel does not include insertion/deletion SNPs) and therefore would not be extracted and included in the above extraction. If the “requestor” has requested such SNPs, there are also the following files provided:
  • ${snp_list}_missing_snps.txt: list of SNPs that were not extracted from imputed files (if this file is empty, all SNPs were in imputed data set).
  • ${snp_list}_missing_snps_extract.fam: PLINK extraction from original genotype data.
  • ${snp_list}_missing_snps_extract.bim: PLINK extraction from original genotype data.
  • ${snp_list}_missing_snps_extract.bed: PLINK extraction from original genotype data.
  • ${snp_list}_missing_snps_extract.raw: PLINK extraction from original genotype data.
  • ${snp_list}_missing_snps_extract.log: PLINK extraction from original genotype data.
  • ${snp_list}_extraction_geno.txt: merged genetic data, same file as above, but with additional SNPs extracted from original genotype data (if necessary), this is the main results file:
    • First column is GPCR ID.
    • Subsequent N columns correspond N SNPs extracted from imputed data: genotype information. Column headers are formatted as VariantID_countedallele, where VariantID is usually an “rs#” and countedallele represents the allele that is counted (data extracted using --raw flag in PLINK).
    • One column for ethnicity (one of: “CEU” (European), “EA” (East Asian), “MIXED”, “NA” (Native American), “YRI” (African))
    • Following 100 columns correspond to genetic principal components.
    • Note: it is strongly encouraged to only us the CEU samples as this our largest and cleanest sample. If using only European, adjust for at least the first 10 PCs in your analysis. If you need to include additional ethnic groups, you have two options: (1) analyze each ethnic group seperately, adjusting for PCs or (2) analyze the entire group together without PCs (PCs were calculated in each ethnic group seperately so you cannot include them in a model where all ethnic groups are included).
  • ${snp_list}_missing_geno_snps.txt: list of SNPs that are still missing after extracting SNPs from original genotyped data.
    • Note: data from the original genotype data has not been cleaned or filtered, so should be used with some caution.
    • List of SNPs extracted from original genotype data can be seen in the bim file: ${snp_list}_missing_snps_extract.bim.
  • All data from imputed files has been processed according to the description outlined in the Genotype quality control page (i.e. SNPs filtered for MAF, HW, info, etc. and participants filtered for sex check, relatedness, etc.).

5. Send results to “requestor”.

  • The simplest way is to likely to move the main results file (${snp_list}_extraction_geno.txt) to a CHUV computer via filezilla.
  • Results then need to be sent to Claire or Celine to convert the GPCR ID to a patient ID.
  • Celine and/or Claire will then transfer the recoded data to the requestor.