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README for SCZ MPRA

created by [email protected] 08/08/2022

BEFORE RUNNING SCRIPTS

  1. Download files files from GEO (GSE211045)
  2. Git clone or download our files and scripts to your local/virtual environment.
  3. Modify config_scz.yml file within files/ folder (You only need to modify first three variables).
    • Modify script_dir: to identify where the scripts/ from github are stored.
    • Modify scz_file_foldername: to identify where the files from GEO are stored.
    • Modify output_file_dir: to identify the location of the mpra result.

RUNNING SCRIPTS

  1. Generate MPRA results:
    • run generate_mpra_result_from_count_fastq if you want to generate MPRA results from FASTQ files
    • run generate_mpra_result_from_count_matrix if you want to generate MPRA results from DNA/RNA count files (these files are preprocessed, merged, and modified FASTQ files).
  2. MPRA result will be created within the folder you specificied above (output_file_dir:).

REFERENCE

Please cite this paper: McAfee JC*, Lee S*, Lee J, Bell JL, Krupa O, Davis J, Insigne K, Bond ML, Zhao N, Boyle BP, Phanstiel DH, Love MI, Stein JL, Ruzicka WB, Davila-Velderrain J, Kosuri S, Won H. (2023) Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants. Cell Genomics doi.org/10.1016/j.xgen.2023.100404.

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