All functions |
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Ensures that parameters are compatible with LDSC format |
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Check for N column if not present and user wants, impute N based on user's sample size. NOTE this will be the same value for each SNP which is not necessarily correct and may cause issues down the line. N can also be inputted with "ldsc", "sum", "giant" or "metal" by passing one or multiple of these. |
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Download VCF file and its index file from Open GWAS |
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Search Open GWAS for datasets matching criteria |
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Check that summary statistics from GWAS are in a homogeneous format |
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Formatted example |
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Infer genome builds |
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UCSC Chain file hg19 to hg38 |
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UCSC Chain file hg38 to hg19 |
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Local ieu-a-298 file from IEU Open GWAS |
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Import full genome-wide GWAS summary statistics from Open GWAS |
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Tabix-index file: table |
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Genome build liftover |
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List munged summary statistics |
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Load the reference genome data for SNPs of interest |
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Loads the SNP locations and alleles for Homo sapiens extracted from NCBI dbSNP Build 144. Reference genome version is dependent on user input. |
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Parse data from log files |
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GWAS Amyotrophic lateral sclerosis ieu open GWAS project - Subset |
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GWAS Educational Attainment Okbay 2016 - Subset |
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Read in file header |
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Determine summary statistics file type and read them into memory |
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Read in VCF file |
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Register cores |
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Standardise the column headers in the Summary Statistics files |
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Summary Statistics Column Headers |
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VCF to DF |
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Write sum stats file to disk |