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Instructions for Input CSV and Pipeline Flags

  1. Add the special fields family_member and family to the input CSV file.

    1.1) Add them to the file header (example header line):

    patient,sample,lane,fastq_1,fastq_2,family_member,family

    1.2) For each data row, append who the person is in the trio (mother, father, child) and the trio number (if there is only one trio, set 1 for all; if there are multiple trios, use subsequent numbers accordingly). Example rows:

    ID1,S1,L002,/out.fq.gz,/out2.fq.gz,child,1
    ID2,S2,L002,/out.fq.gz,/out2.fq.gz,father,1
    ID3,S3,L002,/out.fq.gz,/out2.fq.gz,mother,1
  2. When running the pipeline, specify the flag:

    --coverage_stats true
  3. If you only need regulatory regions of the genome, also specify the flag:

    --intersect true