Last updated: 2020-09-10

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Knit directory: PSYMETAB/

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These are the previous versions of the R Markdown and HTML files. If you’ve configured a remote Git repository (see ?wflow_git_remote), click on the hyperlinks in the table below to view them.

File Version Author Date Message
Rmd 299e192 Jenny Sjaarda 2020-09-10 adding instructions for extracting genetic data
html d53b378 Jenny Sjaarda 2020-09-08 Build site.
Rmd 8743745 Jenny Sjaarda 2020-09-08 wflow_publish(“analysis/extract_genetic_data.Rmd”)

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

1. Format input files.

  • 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: LacLeman2020
    • port: 22
  • Navigate to /data/sgg2/jenny/projects/PSYMETAB/data/raw/extractions
  • If necessary, create directory for person who made data extraction request (“requester”).
  • Save text file from #1 into the folder: /data/sgg2/jenny/projects/PSYMETAB/data/raw/extractions/${requester}.

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

  • Extraction script templates are found in: /data/sgg2/jenny/projects/PSYMETAB/code/extractions (for e.g. /data/sgg2/jenny/projects/PSYMETAB/code/extractions/Aurelie.sh)
  • If an extraction script already exists for the “requester” skip to next step, otherwise:
    • Create an extraction script for the “requester”: /data/sgg2/jenny/projects/PSYMETAB/code/extractions/${requester}.sh.
    • Recommend simply copying and pastying all code from Nicolas_extract.sh script as the new one will be nearly identical.
    • Replace all instances of template’s name with new “requester” (e.g. replace Aurelie with Severine), 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.
    • Ensure file is saved as: /data/sgg2/jenny/projects/PSYMETAB/code/extractions/requester.sh`
  • Login to HPC1 using PUTTY:
    • hostname: je4649@hpc1.chuv.ch
    • password: LacLeman2020
  • Launch sbatch script from master as follows: sbatch $projects/PSYMETAB/code/extractions/${requester}_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).

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).
  • ${snp_list}_SNP_info.txt: info file for each rsID, extracted from HRC list (see HRC website), columns correspond to: #CHROM POS ID REF ALT AC AN AF AC_EXCLUDING_1000G AN_EXCLUDING_1000G AF_EXCLUDING_1000G AA.
  • For each chromosome ($chr), extracted from imputed data, there are the following files from extracting the chromosome specific genetic data using PLINK:
    • ${snp_list}_chr${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 “requester” 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, this is the main results file:
      • First column is GPCR ID.
      • Subsequent N columns correspond N SNPs extracted from imputed data.
      • 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 “requester”.

  • 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 “requester”.