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box::use( |
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data.table[...], |
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stats[na.omit] |
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) |
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preprocess_data <- function() { |
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data_dir <- file.path("data/") |
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variants_tab_full <- fread(file.path(data_dir, "all_variants.annotated.processed.tsv"), na.strings = c(".", "-")) |
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kegg_tab <- fread(file.path(data_dir, "kegg_tab.tsv")) |
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variants_tab <- variants_tab_full[, .(Consequence, GIVEN_REF, Allele, Protein_position, HGVSp, Amino_acids, var_name, Gene, BIOTYPE, SOURCE, SYMBOL, VARIANT_CLASS, chrom, pos)] |
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variants_tab <- variants_tab[!is.na(variants_tab$HGVSp)] |
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variants_tab <- variants_tab[SOURCE == "Ensembl"] |
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setnames(variants_tab, |
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old = c("Gene", "GIVEN_REF", "BIOTYPE", "SYMBOL", "VARIANT_CLASS", "Consequence", "Protein_position", "Amino_acids"), |
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new = c("ensembl_id", "given_ref", "biotype", "gene_name", "variant_class", "consequence", "protein_pos", "amino_acids")) |
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tab <- variants_tab[kegg_tab, on = "ensembl_id", nomatch = 0] |
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tab[, `:=`(gene_definition = NULL, SOURCE = NULL, type = NULL)] |
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return(tab) |
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} |
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preprocess_maf_data <- function() { |
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data_dir <- file.path("data/") |
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kegg_tab <- fread(file.path(data_dir, "kegg_tab.tsv"))[, .(ensembl_id, kegg_paths_name)] |
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kegg_tab <- kegg_tab[ensembl_id != ""] |
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mutations_data <- fread(file.path(data_dir, "brca_tcga_pub2015/data_mutations.txt"), sep = "\t") |
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variants_tab <- mutations_data[, .(Hugo_Symbol, Gene, Chromosome, Start_Position, End_Position, Strand, Consequence, Variant_Classification, Variant_Type, Reference_Allele, Tumor_Seq_Allele2, HGVSc, HGVSp, Protein_position, Codons)] |
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setnames(variants_tab, |
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old = c("Gene", "Hugo_Symbol", "Tumor_Seq_Allele2"), |
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new = c("ensembl_id", "gene_name", "Allele") |
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) |
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variants_tab <- na.omit(variants_tab) |
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genes_sample <- sample(variants_tab$gene_name, 2000) |
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variants_tab <- variants_tab[gene_name %in% genes_sample] |
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variants_tab[, var_name := paste0(Chromosome, "_", Start_Position, "_", Reference_Allele, "/", Allele)] |
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tab <- variants_tab[kegg_tab, on = "ensembl_id", nomatch = 0, allow.cartesian = TRUE] |
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return(tab) |
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} |
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