library(ArrayExpress) library(illuminaHumanv3.db) library(tidyverse) library(here) options(timeout = 1200) outdir <- "data/dilgom/E-TABM-1036" dir.create(outdir, recursive = TRUE, showWarnings = FALSE) out_dilgom <- ArrayExpress::getAE("E-TABM-1036", path = outdir) sdrf <- janitor::clean_names(read_tsv(out_dilgom$sdrf)) dilgom_metadata <- tibble( sample_id = sdrf$source_name, accession = "E-TABM-1036", age_band = sdrf$characteristics_age, sex = sdrf$characteristics_sex ) expr_mat_colnames <- c("IlluminaID", str_split(readLines(out_dilgom$processedFiles, n = 1), "\t")[[1]][-1]) expr_mat_dilgom <- read_tsv(out_dilgom$processedFiles, skip = 2, col_names = expr_mat_colnames ) dilgom_expr_long <- expr_mat_dilgom |> pivot_longer(-IlluminaID, names_to = "sample_id", values_to = "value") |> arrange(sample_id, IlluminaID) # get probeset metadata your_probes_v3 <- expr_mat_dilgom$IlluminaID con_v3 <- illuminaHumanv3_dbconn() extra_v3 <- DBI::dbGetQuery(con_v3, "SELECT * FROM ExtraInfo") anno_v3 <- AnnotationDbi::select( illuminaHumanv3.db, keys = your_probes_v3, columns = c("SYMBOL", "ENTREZID", "ENSEMBL", "GENENAME", "UNIPROT"), keytype = "PROBEID" ) anno_v3_collapsed <- anno_v3 |> group_by(PROBEID) |> summarise( ENSEMBL = paste(unique(na.omit(ENSEMBL)), collapse = ";"), ENTREZID = first(ENTREZID), SYMBOL = first(SYMBOL), GENENAME = first(GENENAME), UNIPROT = paste(unique(na.omit(UNIPROT)), collapse = ";"), .groups = "drop" ) |> mutate(across(c(ENSEMBL, UNIPROT), ~ na_if(.x, ""))) extra_v3_selected <- extra_v3 |> as_tibble() |> filter(IlluminaID %in% your_probes_v3) |> distinct(IlluminaID, .keep_all = TRUE) |> select( IlluminaID, ProbeQuality, CodingZone, ProbeSequence, SecondMatches, OtherGenomicMatches, RepeatMask, OverlappingSNP, GenomicLocation ) dilgom_feature_metadata <- tibble(IlluminaID = your_probes_v3) |> left_join(extra_v3_selected, by = "IlluminaID") |> left_join(anno_v3_collapsed, by = c("IlluminaID" = "PROBEID")) # Check stopifnot(nrow(dilgom_feature_metadata) == length(your_probes_v3)) stopifnot(!any(duplicated(dilgom_feature_metadata$IlluminaID))) # Expected row count stopifnot(nrow(dilgom_expr_long) == nrow(expr_mat_dilgom) * (ncol(expr_mat_dilgom) - 1)) # Every sample in expression data has a metadata row, and vice versa expr_samples_dilgom <- dilgom_expr_long |> distinct(sample_id) meta_samples_dilgom <- dilgom_metadata |> distinct(sample_id) nrow(anti_join(expr_samples_dilgom, meta_samples_dilgom, by = "sample_id")) # expect 0 nrow(anti_join(meta_samples_dilgom, expr_samples_dilgom, by = "sample_id")) # expect 0 -- no documented QC exclusions here, unlike GAinS # No duplicate sample rows in metadata stopifnot(!any(duplicated(dilgom_metadata$sample_id))) # feature_metadata is one row per unique probe, no fan-out stopifnot(nrow(dilgom_feature_metadata) == length(your_probes_v3)) stopifnot(!any(duplicated(dilgom_feature_metadata$IlluminaID))) # Every probe in expression data has an annotation row stopifnot(all(unique(dilgom_expr_long$IlluminaID) %in% dilgom_feature_metadata$IlluminaID)) # No unexpected NAs in join keys stopifnot(!anyNA(dilgom_expr_long$IlluminaID), !anyNA(dilgom_expr_long$sample_id)) stopifnot(!anyNA(dilgom_metadata$sample_id)) # write out # dir.create("data/dilgom/parquet", recursive = TRUE, showWarnings = FALSE) arrow::write_parquet(dilgom_metadata, "~/projects/hf_sepsis_collection/dilgom/sample_metadata.parquet") arrow::write_parquet(dilgom_feature_metadata, "~/projects/hf_sepsis_collection/dilgom/feature_metadata.parquet") arrow::write_parquet(dilgom_expr_long, "~/projects/hf_sepsis_collection/dilgom/expression.parquet")