Mapping genetic convergence across brain structure, mental health, and cardiometabolic disease.
The 4 matches · 1 of them tie a paragraph to a whole file, not to given lines: a weak match, whose lines are not tinted
- [1] § Methods › Statistical analyses › Estimating causal relationships ↔ R/userGWASa.r, lines 1–74 · score 0.74 · GenomicSEM, GWAS summary statistics, covariance matrices, standard errors, flexible, multivariable
- [2] § Methods › Statistical analyses › Mapping shared genetic loci ↔ pleioFDR_amd.m, the whole file · a weak match · score 0.65 · leveraging pleiotropic, discovery rate, conjunctional, condFDR, conjFDR, phenotypes
- [3] § Methods › Statistical analyses › Estimating causal relationships ↔ R/rgmodel.R, lines 1–35 · score 0.61 · LD score regression, genetic covariance matrices, genetically correlated, multivariable, GenomicSEM, phenotype
- [4] § Methods › Statistical analyses › Mapping shared genetic loci ↔ plot_Manhattan.m, lines 116–220 · score 0.55 · condFDR, conjFDR, loci, thresholds
Paper
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The authors' code
R · 388 lines · 17 KB · GPL-3.0 · 1 match
- #' userGWASa: Ultra-fast multivariate GWAS with flexible analytic estimation
- #'
- #' Runs a multivariate GWAS across a set of
- #' GWAS summary statistics and a user-specified factor model. Factor-specific
- #' SNP effects (betas, SEs, Z-statistics, p-values) and an omnibus
- #' heterogeneity statistic (Q_omnibus) are computed.
- #'
- #' @param sumstats A \code{data.frame} of merged GWAS summary statistics,
- #' as produced by the \code{sumstats()} function in GenomicSEM. Must contain
- #' columns \code{SNP}, \code{A1}, \code{A2}, \code{MAF}, \code{N}, and
- #' trait-specific \code{beta.*} and \code{se.*} columns.
- #' @param LDSCoutput A list object returned by the \code{ldsc()} function.
- #' @param model A character string specifying the factor model in
- #' \code{lavaan}-style syntax. Ignored if
- #' \code{usermod} is provided.
- #' @param usermod Optional. A pre-fitted no-SNP model results data frame
- #' (the \code{$results} element from a \code{usermodel()} call). When
- #' supplied, the function skips fitting the no-SNP model internally and uses
- #' these parameter estimates directly to extract lambda coefficients.
- #' Default is \code{NULL}.
- #' @param batch_size Integer. Number of SNPs to process per batch. Larger
- #' values increase memory use but reduce overhead. Default is \code{100000}.
- #'
- #' @return A \code{data.frame} with one row per SNP and the following columns:
- #' \itemize{
- #' \item The first 6 columns from \code{sumstats} (SNP identifiers and
- #' allele information).
- #' \item \code{beta_<factor>}: GLS-estimated SNP effect on each factor.
- #' \item \code{SE_<factor>}: Sandwich-corrected standard error of the
- #' factor beta.
- #' \item \code{Z_beta_<factor>}: Z-statistic for the factor beta.
- #' \item \code{p_val_<factor>}: Two-sided p-value for the factor beta.
- #' \item \code{Q_omnibus}, \code{Q_omnibus_df}, \code{Q_omnibus_pval}:
- #' Omnibus Q_SNP statistic across all traits, its degrees of freedom,
- #' and p-value.
- #' }
- #'
- #' @details
- #' The function implements a two-stage approach. First, a no-SNP factor model
- #' is fit using \code{\link[GenomicSEM]{usermodel}} with DWLS estimation to
- #' obtain factor loading estimates (lambdas). Second, for each batch of SNPs,
- #' SNP-to-factor betas are estimated via GLS using the diagonal of the
- #' SNP-specific sampling covariance matrix as weights, with a sandwich
- #' variance estimator for the standard errors.
- #'
- #' The Q_omnibus statistic tests whether the observed SNP-trait association
- #' vector is consistent with the implied factor model.
- #'
- #' @seealso \code{\link[GenomicSEM]{usermodel}}, \code{\link[GenomicSEM]{userGWAS}}
- #' @noRd
- #'
- #' @examples
- #' \dontrun{
- #' load("LDSC_PSYCH.RData")
- #' sumstats <- data.table::fread("Psych_sumstats_4GLS.txt", data.table = FALSE)
- #'
- #' model <- '
- #' Psych =~ a*SCZ + a*BIP
- #' Neuro =~ ADHD + MDD + ASD
- #' Psych ~~ Neuro
- #' Psych ~ SNP
- #' Neuro ~ SNP
- #' '
- #'
- #' results <- userGWASa(
- #' sumstats = sumstats,
- #' LDSCoutput = LDSC_P,
- #' model = model,
- #' batch_size = 50000
- #' )
- #' }
- #'
- #' @keywords internal
- .userGWASa <- function(sumstats, LDSCoutput, model, usermod = NULL, batch_size = 100000) {
- # Helper function: V' M V
- VMV <- function(V1, M, V2) { V1 %*% M %*% V2 }
- # Helper function: correlation matrix -> covariance matrix, given SDs
- cor2cov <- function(R, sds) {
- D <- diag(sds, nrow = length(sds))
- D %*% R %*% D
- }
- # Helper function: pull explicit ('N*indicator') fixed loadings out of model syntax
- parse_fixed_loadings <- function(model_text) {
- lines <- trimws(strsplit(model_text, "\n")[[1]])
- loading_lines <- grep("=~", lines, fixed = TRUE, value = TRUE)
- if (length(loading_lines) == 0) {
- return(data.frame(lhs = character(), op = character(), rhs = character(),
- Unstand_Est = numeric(), stringsAsFactors = FALSE))
- }
- out <- do.call(rbind, lapply(loading_lines, function(line) {
- parts <- strsplit(line, "=~", fixed = TRUE)[[1]]
- factor <- trimws(parts[1])
- tokens <- trimws(strsplit(parts[2], "\\+")[[1]])
- tokens <- tokens[nzchar(tokens)]
- fixed_val <- rep(NA_real_, length(tokens))
- indicator <- character(length(tokens))
- for (t in seq_along(tokens)) {
- m <- regmatches(tokens[t], regexec("^([0-9]*\\.?[0-9]+)\\*(.+)$", tokens[t]))[[1]]
- if (length(m) == 3) {
- fixed_val[t] <- as.numeric(m[2])
- indicator[t] <- trimws(m[3])
- } else {
- indicator[t] <- tokens[t]
- }
- }
- if (all(is.na(fixed_val))) fixed_val[1] <- 1 # lavaan's default marker rule
- data.frame(lhs = factor, op = "=~", rhs = indicator,
- Unstand_Est = fixed_val, stringsAsFactors = FALSE)
- }))
- out[!is.na(out$Unstand_Est), ]
- }
- # Helper function: recover the free-parameter table usermodel() prints but doesn't return
- parse_partial_results <- function(captured_output) {
- header_idx <- grep("^\\s*lhs\\s+op\\s+rhs\\b", captured_output)
- if (length(header_idx) == 0) return(NULL)
- header_idx <- header_idx[1]
- end_idx <- length(captured_output)
- tail_blank <- which(!nzchar(trimws(captured_output[(header_idx + 1):end_idx])))
- if (length(tail_blank) > 0) end_idx <- header_idx + tail_blank[1] - 1
- table_text <- paste(captured_output[header_idx:end_idx], collapse = "\n")
- parsed <- tryCatch(
- read.table(text = table_text, header = TRUE, stringsAsFactors = FALSE),
- error = function(e) NULL
- )
- if (is.null(parsed) || !all(c("lhs", "op", "rhs") %in% colnames(parsed))) return(NULL)
- est_col <- intersect(c("Unstand_Est", "Unstandardized_Estimate"), colnames(parsed))
- if (length(est_col) == 0) return(NULL)
- parsed$Unstand_Est <- parsed[[est_col[1]]]
- parsed
- }
- # Helper function: flag latent factors with a negative variance estimate
- check_latent_variances <- function(df, factors) {
- self_var <- df[df$op == "~~" & df$lhs == df$rhs & df$lhs %in% factors, ]
- self_var$lhs[as.numeric(self_var$Unstand_Est) < 0]
- }
- start_time <- Sys.time()
- cat("userGWASa started at:", format(start_time, "%Y-%m-%d %H:%M:%S"), "\n")
- # Coerce to plain data.frame to ensure consistent column subsetting
- # regardless of whether input is a data.table, tibble, or other tabular class
- sumstats <- as.data.frame(sumstats)
- # ── No-SNP model ──────────────────────────────────────────────────────────────
- if (is.character(model) & is.null(usermod)) {
- model_lines <- strsplit(model, "\n")[[1]]
- snp_lines <- grep("~.*\\bSNP\\b", model_lines, value = TRUE)
- nosnp_model <- paste(grep("~.*\\bSNP\\b", model_lines, value = TRUE, invert = TRUE),
- collapse = "\n")
- captured_output <- capture.output(
- suppressWarnings(suppressMessages({
- nosnpmod <- usermodel(
- LDSCoutput, estimation = "DWLS", model = nosnp_model,
- CFIcalc = FALSE, std.lv = FALSE, imp_cov = FALSE
- )
- }))
- )
- nosnpmod <- nosnpmod$results
- # Re-emit smoothing warning if it occurred
- if (any(grepl("smoothed", captured_output))) {
- warning("The S matrix was smoothed prior to model estimation. ")
- }
- } else {
- nosnpmod <- usermod
- }
- # usermodel() falls through with no explicit return (i.e. NULL) when the no-SNP
- # fit fails to converge, or when it lands on an inadmissible solution (a Heywood
- # case: negative residual/latent variance, or an out-of-bounds latent
- # correlation) -- in both cases its diagnostic warning/print is swallowed by the
- # suppressWarnings()/capture.output() above, and the free-parameter estimates it
- # printed (but did not return) are the only usable record of that fit. Recover
- # those from captured_output and proceed with a warning rather than silently
- # letting the NULL/malformed table cascade into extract_lambdas() and surface
- # many steps later as an opaque vector-length error out of paste0()/colnames<-.
- if (is.null(nosnpmod) || !is.data.frame(nosnpmod) || nrow(nosnpmod) == 0 ||
- !all(c("lhs", "op", "rhs") %in% colnames(nosnpmod))) {
- recovered <- if (exists("captured_output")) parse_partial_results(captured_output) else NULL
- if (is.null(recovered)) {
- diagnostic <- if (exists("captured_output")) paste(utils::head(captured_output, 15), collapse = "\n") else ""
- if (nchar(diagnostic) > 1500) diagnostic <- paste0(substr(diagnostic, 1, 1500), "\n...(truncated)")
- stop(
- "The no-SNP measurement model failed to fit and produced no usable parameter table ",
- "(it did not converge, and no recoverable free-parameter estimates were printed). ",
- "Please respecify the model.",
- if (nzchar(diagnostic)) paste0("\n\nDiagnostic output:\n", diagnostic) else "",
- call. = FALSE
- )
- }
- warning(
- "The no-SNP measurement model landed on an inadmissible solution (a Heywood case: a ",
- "negative residual/latent variance, or an out-of-bounds latent correlation). Proceeding ",
- "with the free-parameter estimates from that fit -- results for the affected factor(s) ",
- "are numerically unreliable and should be interpreted with caution. Consider ",
- "respecifying the measurement model.",
- call. = FALSE
- )
- nosnpmod <- recovered
- }
- if (!"Unstand_Est" %in% colnames(nosnpmod) && "Unstandardized_Estimate" %in% colnames(nosnpmod)) {
- nosnpmod$Unstand_Est <- nosnpmod$Unstandardized_Estimate
- }
- # Backfill any explicitly fixed ('N*indicator') loadings missing from the table --
- # usermodel() drops these when it falls back to the free-parameters-only table
- # above for an inadmissible/non-converged fit.
- fixed_loadings <- parse_fixed_loadings(model)
- missing <- !paste(fixed_loadings$lhs, fixed_loadings$op, fixed_loadings$rhs) %in%
- paste(nosnpmod$lhs, nosnpmod$op, nosnpmod$rhs)
- if (any(missing)) nosnpmod <- dplyr::bind_rows(nosnpmod, fixed_loadings[missing, , drop = FALSE])
- # ── Extract lambda coefficients ───────────────────────────────────────────────
- factors <- unique(nosnpmod$lhs[nosnpmod$op == "=~"])
- # usermodel()'s own Heywood check (cor.lv-based) can miss a negative latent
- # variance -- e.g. two correlated latents both negative cancel out in the ratio,
- # or a single latent uncorrelated with any other skips the check entirely.
- negative_factors <- check_latent_variances(nosnpmod, factors)
- if (length(negative_factors) > 0) {
- warning(
- "Negative latent variance estimate for factor(s): ", paste(negative_factors, collapse = ", "),
- ". Loadings/betas for the affected factor(s) may be unreliable.",
- call. = FALSE
- )
- }
- traits <- colnames(LDSCoutput$S)
- num_traits <- ncol(LDSCoutput$S)
- num_factors <- length(factors)
- combinations <- expand.grid(traits = traits, factors = factors)
- column_names <- paste0("lambda.", combinations$traits, "_", combinations$factors)
- extract_lambdas <- function(df, factors, traits, num_traits, num_factors) {
- lambdas <- rep(0, num_traits * num_factors)
- for (factor_idx in seq_along(factors)) {
- factor <- factors[factor_idx]
- for (trait_idx in seq_along(traits)) {
- trait <- traits[trait_idx]
- row <- df[df$lhs == factor & df$rhs == trait & df$op == "=~", ]
- lambda_value <- if (nrow(row) > 0) row$Unstand_Est else 0
- lambdas[(factor_idx - 1) * num_traits + trait_idx] <- lambda_value
- }
- }
- lambdas_df <- data.frame(matrix(lambdas, nrow = 1, byrow = TRUE))
- colnames(lambdas_df) <- column_names
- return(lambdas_df)
- }
- lambdas <- extract_lambdas(nosnpmod, factors, traits, num_traits, num_factors)
- # ── Initialise output data frame ──────────────────────────────────────────────
- GLS_mGWAS_results <- sumstats[, 1:6]
- for (j in factors) {
- GLS_mGWAS_results[[paste0("beta_", j)]] <- NA_real_
- GLS_mGWAS_results[[paste0("SE_", j)]] <- NA_real_
- GLS_mGWAS_results[[paste0("Z_beta_", j)]] <- NA_real_
- GLS_mGWAS_results[[paste0("p_val_", j)]] <- NA_real_
- }
- GLS_mGWAS_results <- GLS_mGWAS_results %>%
- mutate(Q_omnibus = NA_real_, Q_omnibus_df = NA_real_, Q_omnibus_pval = NA_real_)
- # ── Batch loop ────────────────────────────────────────────────────────────────
- total_batches <- ceiling(nrow(sumstats) / batch_size)
- pb <- txtProgressBar(min = 0, max = total_batches, style = 3)
- for (batch_num in seq_len(total_batches)) {
- i <- (batch_num - 1) * batch_size + 1
- batch_end <- min(i + batch_size - 1, nrow(sumstats))
- snp_batch <- sumstats[i:batch_end, ]
- batch_indices <- i:batch_end
- betas <- snp_batch %>% select(contains("beta."))
- SEs <- snp_batch %>% select(contains("se."))
- # Lambda matrix
- lambdas_snp <- as.numeric(lambdas)
- R_SNP <- LDSCoutput$I
- diag(R_SNP)[diag(R_SNP) < 1] <- 1
- X <- matrix(lambdas_snp, nrow = num_traits, ncol = num_factors)
- colnames(X) <- factors
- # SNP-trait beta and SE lists
- beta_l <- lapply(transpose(betas), function(x) as.numeric(unlist(x)))
- se_snp <- lapply(transpose(SEs), function(x) as.numeric(unlist(x)))
- # V_SNP list and its diagonalised inverse
- V_SNP_list <- apply(SEs, 1, function(se) {
- cor2cov(R = as.matrix(R_SNP), sds = as.numeric(se))
- }, simplify = FALSE)
- V_d_list_inv <- lapply(V_SNP_list, function(V_SNP) diag(1 / diag(V_SNP)))
- # GLS factor betas (sandwich SE)
- Beta_list <- unname(Map(function(V_d_inv, beta) {
- solve(t(X) %*% V_d_inv %*% X) %*% t(X) %*% V_d_inv %*% beta
- }, V_d_list_inv, beta_l))
- SE_parallel_list <- unname(Map(function(V_d_inv, V_SNP) {
- bread <- solve(t(X) %*% V_d_inv %*% X)
- meat <- t(X) %*% V_d_inv %*% V_SNP %*% V_d_inv %*% X
- sandwich <- bread %*% meat %*% bread
- sqrt(diag(sandwich))
- }, V_d_list_inv, V_SNP_list))
- # Convert to data frames
- SE_parallel_df <- as.data.frame(do.call(rbind, SE_parallel_list))
- colnames(SE_parallel_df) <- paste0("SE_", factors)
- Beta_parallel_df <- as.data.frame(do.call(rbind, lapply(Beta_list, as.numeric)))
- colnames(Beta_parallel_df) <- paste0("Beta_", factors)
- Z_df_parallel <- Beta_parallel_df / SE_parallel_df
- colnames(Z_df_parallel) <- paste0("Z_", factors)
- # ── Q_omnibus ───────────────────────────────────────────────────────────────
- solveI <- solve(LDSCoutput$I)
- beta_hats_list <- lapply(Beta_list, function(beta) {
- as.matrix(beta)[, 1] %*% t(X)
- })
- Resid_parallel_list <- mapply(function(beta, beta_hat) {
- unname(as.numeric(as.vector(beta) - beta_hat))
- }, beta_l, beta_hats_list, SIMPLIFY = FALSE)
- inside_list <- lapply(se_snp, function(SEs_snp) {
- SEs_snp <- as.numeric(SEs_snp)
- solveI / (SEs_snp %*% t(SEs_snp))
- })
- Q_Omnibus_parallel <- mapply(Resid_parallel_list, inside_list, Resid_parallel_list,
- FUN = VMV)
- # ── Write batch results ──────────────────────────────────────────────────────
- for (j in factors) {
- GLS_mGWAS_results[batch_indices, paste0("beta_", j)] <- Beta_parallel_df[, paste0("Beta_", j)]
- GLS_mGWAS_results[batch_indices, paste0("SE_", j)] <- SE_parallel_df[, paste0("SE_", j)]
- GLS_mGWAS_results[batch_indices, paste0("Z_beta_", j)] <- Z_df_parallel[, paste0("Z_", j)]
- GLS_mGWAS_results[batch_indices, paste0("p_val_", j)] <- 2 * pnorm(-abs(
- GLS_mGWAS_results[batch_indices, paste0("Z_beta_", j)]))
- }
- GLS_mGWAS_results[batch_indices, "Q_omnibus"] <- Q_Omnibus_parallel
- GLS_mGWAS_results[batch_indices, "Q_omnibus_df"] <- length(colnames(betas)) - ncol(Beta_parallel_df)
- GLS_mGWAS_results[batch_indices, "Q_omnibus_pval"] <- pchisq(
- GLS_mGWAS_results[batch_indices, "Q_omnibus"],
- df = GLS_mGWAS_results[batch_indices, "Q_omnibus_df"],
- lower.tail = FALSE
- )
- GLS_mGWAS_results <- GLS_mGWAS_results %>% select(where(~ !all(is.na(.))))
- setTxtProgressBar(pb, batch_num)
- rm(snp_batch)
- if (batch_num %% 10 == 0) gc()
- }
- close(pb)
- end_time <- Sys.time()
- elapsed_time <- end_time - start_time
- cat("Finished at:", format(end_time, "%Y-%m-%d %H:%M:%S"), "\n")
- cat("Total time elapsed:", round(elapsed_time, 2), attr(elapsed_time, "units"), "\n")
- return(GLS_mGWAS_results)
- }
userGWASa.r at commit 6b65ca5, under GPL-3.0 · at the source
Overview
- Centre for Precision Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital & Institute of Clinical Medicine, University of Oslo, Oslo, Norway
- K.G. Jebsen Centre for Neurodevelopmental Disorders, University of Oslo and Oslo University Hospital, Oslo, Norway
- Department of Medical Genetics, Oslo University Hospital & University of Oslo, Oslo, Norway
- Department of Radiology, School of Medicine, University of California San Diego, La Jolla, CA USA
- Center for Multimodal Imaging and Genetics, J. Craig Venter Institute, La Jolla, CA USA
- Department of Psychiatry, School of Medicine, University of California San Diego, La Jolla, CA USA
- Department of Cognitive Science, University of California San Diego, La Jolla, CA USA
- Department of Neuroscience, University of California San Diego, La Jolla, CA USA
Abstract
The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.
Repositories
Its files are read in the Code ↔ Paper reader above, with 4 matches between paragraphs and lines of code.
BioPsyk/cleansumstats
e4fbc72d209466172fecc83f38dc608bed5ed190, 4 September 2025Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
135 files
- add1kgaf2clean.sh, Shell, 77 lines
- bin/
add_af_stats.sh , Shell, 10 lines - bin/
add_sorted_rowindex_to_s , Shell, 3 linesumstat.sh - bin/
add_suffix_to_colnames.s , Shell, 5 linesh - bin/
allele_correction.sh , Shell, 30 lines - bin/
allele_correction_onlyA1 , Shell, 27 lines.sh - bin/
apply_modifier_on_stats. , Shell, 160 linessh - bin/
assemble_stats_and_acorr , Shell, 12 linesected.sh - bin/
check_and_format_sfile.s , Shell, 110 linesh - bin/
check_filter_names.sh , Shell, 58 lines - bin/
check_stat_inference_ava , Shell, 158 linesil.sh - bin/
check_stat_inference_fun , Shell, 149 linesctionfile.sh - bin/
convert_cleaned_to_vcf.s , Shell, 158 linesh - bin/
convert_logP.sh , Shell, 9 lines - bin/
convert_neglogP.sh , Shell, 9 lines - bin/
create_output_meta_data_ , Shell, 85 linesfile_cleaned.sh - bin/
create_output_meta_data_ , Shell, 85 linesfile_rerun.sh - bin/
create_output_one_line_m , Shell, 97 lineseta_data_file.sh - bin/
db_communicate.sh , Shell, 77 lines - bin/
db_function.sh , Shell, 151 lines - bin/
dbsnp_reference_duplicat , Shell, 51 linese_position_filter.sh - bin/
dbsnp_reference_filter_a , Shell, 20 linesnd_convert.sh - bin/
dbsnp_reference_liftover , Shell, 25 lines.sh - bin/
decide_SNP_CHRPOS_path.s , Shell, 65 linesh - bin/
doesA2exist.sh , Shell, 20 lines - bin/
filter_after_allele_corr , Shell, 57 linesection.sh - bin/
filter_after_liftover.sh , Shell, 118 lines - bin/
filter_before_liftover.s , Shell, 56 linesh - bin/
filter_stat_values_awk.s , Shell, 65 linesh - bin/
flip_direction_on_clean. , Shell, 144 linessh - bin/
flip_effects.sh , Shell, 97 lines - bin/
force_effect_allele_freq , Shell, 37 linesuency.sh - bin/
format_chrpos_for_dbsnp. , Shell, 21 linessh - bin/
gendb_1kaf_extract_freq_ , Shell, 60 linesdata.sh - bin/
make_metafile_unix_frien , Shell, 7 linesdly.sh - bin/
map_to_adhoc_function.sh , Shell, 103 lines - bin/
markdown_to_html.r , R, 51 lines - bin/
metadata_legacy_to_yaml. , Python, 306 linespy - bin/
metadata_to_table.py , Python, 111 lines - bin/
multiallelic_filter.sh , Shell, 6 lines - bin/
numeric_filter_stats.sh , Shell, 31 lines - bin/
prepare_dbsnp_mapping_fo , Shell, 25 linesr_rsid.sh - bin/
reformat_chromosome_info , Shell, 41 linesrmation.sh - bin/
remove_chrpos_allele_dup , Shell, 55 lineslicates.sh - bin/
remove_duplicated_rsid_b , Shell, 17 linesefore_liftmap.sh - bin/
rename_stat_col_names.sh , Shell, 154 lines - bin/
rm_dup_chrpos_before_map , Shell, 9 lineslift.sh - bin/
scrape_software_versions , Python, 48 lines.py - bin/
select_stats_for_output. , Shell, 371 linessh - bin/
select_unique_column_hea , Shell, 29 linesder.sh - bin/
split_multiallelics_to_r , Shell, 9 linesows.sh - bin/
table_from_sumstat_libra , Shell, 7 linesry.sh - bin/
try_infere_Neffective.sh , Shell, 51 lines - bin/
warnings_liftover_percen , Shell, 44 linestage.sh - clean2vcf.sh, Shell, 59 lines
- cleanflipdirection.sh, Shell, 51 lines
- cleansumstats.sh, Shell, 1,142 lines
- docker/
install-sumstat-tools.sh , Shell, 33 lines - run_sumstat_6_mapping.sh
, Shell, 74 lines - scripts/
check-multiarch.sh , Shell, 49 lines - scripts/
docker-build.sh , Shell, 21 lines - scripts/
docker-deploy-build.sh , Shell, 52 lines - scripts/
docker-deploy-push.sh , Shell, 57 lines - scripts/
docker-deploy-test-run.s , Shell, 37 linesh - scripts/
docker-run-dh.sh , Shell, 9 lines - scripts/
docker-run.sh , Shell, 8 lines - scripts/
docker-shell.sh , Shell, 9 lines - scripts/
init-containerization.sh , Shell, 30 lines - scripts/
kill-nextflow.sh , Shell, 4 lines - scripts/
singularity-build.sh , Shell, 8 lines - scripts/
singularity-run.sh , Shell, 18 lines - scripts/
singularity-shell.sh , Shell, 17 lines - tablefromsumstatlibrary.
sh , Shell, 46 lines - test_applymapping.sh, Shell, 122 lines
- tests/
deprecated-parallel-feat , Shell, 427 linesures/ lib/ job-manager.sh - tests/
deprecated-parallel-feat , Shell, 369 linesures/ lib/ progress-display.sh - tests/
deprecated-parallel-feat , Shell, 15 linesures/ lib/ test-nextflow.sh - tests/
deprecated-parallel-feat , Shell, 60 linesures/ lib/ test-wrapper.sh - tests/
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deprecated-parallel-feat , Shell, 274 linesures/ run-e2e-tests-enhanced.s h - tests/
e2e/ , Shell, 90 linestest_cases.sh - tests/
e2e/ , Shell, 158 linestest_maponly_basics.sh - tests/
e2e/ , Shell, 138 linestest_regression_106.sh - tests/
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e2e/ , Shell, 140 linestest_regression_393.sh - tests/
e2e/ , Shell, 146 linestest_regression_438.sh - tests/
e2e/ , Shell, 125 linestest_regression_missing_ variants.sh - tests/
lib/ , Shell, 67 linesutils.sh - tests/
run-e2e-tests.sh , Shell, 168 lines - tests/
run-tests.sh , Shell, 96 lines - tests/
run-unit-tests.sh , Shell, 58 lines - tests/
unit/ , Shell, 125 linesdeprecated/ test_convert_cleaned_to_ vcf.sh - tests/
unit/ , Shell, 110 linesdeprecated_test_rm_dup_c hrpos_before_maplift.sh - tests/
unit/ , Shell, 111 linestest_add_af_stats.sh - tests/
unit/ , Shell, 98 linestest_add_index_sumstat.s h - tests/
unit/ , Shell, 148 linestest_allele_correction.s h - tests/
unit/ , Shell, 151 linestest_apply_modifier_on_s tats.sh - tests/
unit/ , Shell, 68 linestest_check_and_format_sf ile.sh - tests/
unit/ , Shell, 99 linestest_check_stat_inferenc e_avail.sh - tests/
unit/ , Shell, 80 linestest_convert_neglogP.sh - tests/
unit/ , Shell, 108 linestest_create_output_meta_ data_file_cleaned.sh - tests/
unit/ , Shell, 135 linestest_dbsnp_reference_dup licated_positions_filter .sh - tests/
unit/ , Shell, 78 linestest_dbsnp_reference_fil ter_and_convert.sh - tests/
unit/ , Shell, 87 linestest_dbsnp_reference_lif tover.sh - tests/
unit/ , Shell, 184 linestest_flip_direction_on_c lean.sh - tests/
unit/ , Shell, 142 linestest_flip_effects.sh - tests/
unit/ , Shell, 114 linestest_gendb_1kaf_extract_ freq_data.sh - tests/
unit/ , Shell, 83 linestest_make_metafile_unix_ friendly.sh - tests/
unit/ , Shell, 112 linestest_map_to_adhoc_functi on.sh - tests/
unit/ , Shell, 48 linestest_metadata_legacy_to_ yaml.sh - tests/
unit/ , Shell, 169 linestest_metadata_to_table.s h - tests/
unit/ , Shell, 126 linestest_numeric_filter_stat s.sh - tests/
unit/ , Shell, 164 linestest_prepare_dbsnp_mappi ng_for_rsid.sh - tests/
unit/ , Shell, 99 linestest_reformat_chromosome _information.sh - tests/
unit/ , Shell, 144 linestest_remove_chrpos_allel e_duplicates.sh - tests/
unit/ , Shell, 109 linestest_remove_duplicated_r sid_before_liftmap.sh - tests/
unit/ , Shell, 84 linestest_rename_stat_col_nam es.sh - tests/
unit/ , Shell, 112 linestest_select_stats_for_ou tput.sh - tests/
validators/ , Python, 46 linesvalidate-cleaned-metadat a.py - tests/
validators/ , Python, 87 linesvalidate-cleaned-sumstat s.py - README.md, Text, 130 lines
bulik/ldsc
2fdeeb3b44379408794154993dbd6101b8946b7e, 16 January 2026Availability: 1 check, the latest on 26 September 2026: the link answers
- 26 September 2026: the link answers
27 files
- ContinuousAnnotations/
quantile_M.pl , Perl, 241 lines - ContinuousAnnotations/
quantile_h2g.r , R, 76 lines - ldsc.py, Python, 660 lines
- ldscore/
__init__.py , Python, 1 line - ldscore/
irwls.py , Python, 196 lines - ldscore/
jackknife.py , Python, 514 lines - ldscore/
ldscore.py , Python, 415 lines - ldscore/
parse.py , Python, 292 lines - ldscore/
regressions.py , Python, 743 lines - ldscore/
sumstats.py , Python, 581 lines - make_annot.py, Python, 56 lines
- munge_sumstats.py, Python, 745 lines
- setup.py, Python, 20 lines
- test/
parse_test/ , MATLAB, 1 linetest.l2.M - test/
parse_test/ , MATLAB, 1 linetest1.l2.M - test/
parse_test/ , MATLAB, 1 linetest2.l2.M - test/
parse_test/ , MATLAB, 1 linetest_bad.l2.M - test/
simulate.py , Python, 81 lines - test/
test_irwls.py , Python, 69 lines - test/
test_jackknife.py , Python, 267 lines - test/
test_ldscore.py , Python, 111 lines - test/
test_munge_sumstats.py , Python, 358 lines - test/
test_parse.py , Python, 129 lines - test/
test_regressions.py , Python, 342 lines - test/
test_sumstats.py , Python, 487 lines - LICENSE, License, 675 lines
- README.md, Text, 122 lines
comorment/ldsc
f2d7d6f7fffc4d12236f50740f7c848f8ddf6d9c, 10 November 2022Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
58 files
- docs/
source/ , Python, 48 linesconf.py - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.1.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.10.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.11.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.12.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.13.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.14.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.15.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.16.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.17.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.18.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.19.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.2.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.20.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.21.l2.M - reference/
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1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.3.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.4.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.5.l2.M - reference/
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1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.7.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.8.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee/ baseline.9.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 1.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 10.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 11.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 12.l2.M - reference/
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1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 14.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 15.l2.M - reference/
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1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 19.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 2.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 20.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 21.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 22.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 3.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 4.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 5.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 6.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 7.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 8.l2.M - reference/
1000G_EUR_Phase3_baselin , MATLAB, 1 linee_split/ base/ 9.l2.M - scripts/
sLDSC.py , Python, 83 lines - src/
legacy_version/ , Shell, 26 linesbasictools.sh - src/
legacy_version/ , Shell, 7 linesinstall_ldsc.sh - src/
legacy_version/ , Shell, 15 linesminiconda.sh - src/
scripts/ , Shell, 36 linesapt_get_essential.sh - src/
scripts/ , Shell, 40 linesconvert_docker_image_to_ singularity.sh - src/
scripts/ , Shell, 6 linesinstall_miniconda.sh - src/
scripts/ , Shell, 18 linesmove_singularity_file.sh - tests/
extras/ , Python, 9 lineshello.py - tests/
test_ldsc.py , Python, 60 lines - version/
version.py , Python, 11 lines - LICENSE, License, 674 lines
- README.md, Text, 21 lines
precimed/mix3r
3faefc3b33123bec7db50c857f5ce03d81697bbb, 21 July 2025Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
9 files
- cost_profile.ipynb, Jupyter, 51 lines
- docker/
entrypoint.sh , Shell, 41 lines - euler.ipynb, Jupyter, 1,004 lines
- extract_p.py, Python, 58 lines
- make_euler.r, R, 74 lines
- make_template.py, Python, 112 lines
- mix3r_int_weights.py, Python, 1,140 lines
- run_slurm_int.sh, Shell, 19 lines
- README.md, Text, 218 lines
GenomicSEM/GenomicSEM
6b65ca5db39fdade08b0d811477be1cdd57b5039, 26 August 2026Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
34 files
- R/
addGenes.R , R, 143 lines - R/
addSNPs.R , R, 267 lines - R/
commonfactor.R , R, 403 lines - R/
commonfactorGWAS.R , R, 276 lines - R/
commonfactorGWAS_main.R , R, 216 lines - R/
enrich.R , R, 611 lines - R/
hdl.R , R, 524 lines - R/
indexS.R , R, 51 lines - R/
ldsc.R , R, 583 lines - R/
localSRMD.R , R, 22 lines - R/
multiGene.R , R, 349 lines - R/
multiSNP.R , R, 364 lines - R/
munge.R , R, 109 lines - R/
munge_main.R , R, 138 lines - R/
paLDSC.R , R, 380 lines - R/
qtrait.r , R, 738 lines - R/
read_fusion.R , R, 99 lines - R/
rgmodel.R , R, 1,063 lines, 1 match - R/
s_ldsc.R , R, 851 lines - R/
simLDSC.R , R, 225 lines - R/
subSV.R , R, 77 lines - R/
summaryGLS.R , R, 57 lines - R/
summaryGLSbands.R , R, 271 lines - R/
sumstats.R , R, 142 lines - R/
sumstats_main.R , R, 226 lines - R/
userGWAS.R , R, 490 lines - R/
userGWAS_main.R , R, 403 lines - R/
userGWASa.r , R, 388 lines, 1 match - R/
usermodel.R , R, 685 lines - R/
utils.R , R, 226 lines - R/
utils_sanitychecks.R , R, 67 lines - R/
write.model.R , R, 108 lines - LICENSE, License, 621 lines
- README.md, Text, 99 lines
precimed/pleiofdr
0da963cac22fe8de9030166d7aea974bcbb0a367, 3 June 2025Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
50 files
- FastPrune.m, MATLAB, 36 lines
- GCcorrect_logpvec.m, MATLAB, 39 lines
- MultipleRunUtility.sh, Shell, 52 lines
- SparseSmooth2d.m, MATLAB, 45 lines
- TextConfig.m, MATLAB, 134 lines
- binofit_dale.m, MATLAB, 30 lines
- binofit_wrap.m, MATLAB, 7 lines
- check_sample_overlap.m, MATLAB, 17 lines
- cond_FDR_amd.m, MATLAB, 40 lines
- conj_lookup_table.m, MATLAB, 17 lines
- correct_sample_overlap.m
, MATLAB, 21 lines - filter_points_for_plotti
ng.m , MATLAB, 46 lines - fisher_comStats.m, MATLAB, 21 lines
- fuma/
cond_fuma_combined.R , R, 54 lines - fuma/
conj_fuma_combined_lead. , R, 70 linesR - fuma/
conj_fuma_combined_novel , Python, 50 linesty.py - fuma/
conj_fuma_combined_snps. , R, 67 linesR - fuma/
csv_to_excel.ipynb , Jupyter, 947 lines - ind_loci_idx.m, MATLAB, 37 lines
- is_octave.m, MATLAB, 4 lines
- load_gwas.m, MATLAB, 54 lines
- locusnumber.m, MATLAB, 44 lines
- lookup_table.m, MATLAB, 160 lines
- pleioFDR_amd.m, MATLAB, 95 lines, 1 match
- pleioOpt.m, MATLAB, 134 lines
- pleiotropy_analysis.m, MATLAB, 293 lines
- plot_Manhattan.m, MATLAB, 307 lines, 1 match
- plot_enrichment_amd.m, MATLAB, 183 lines
- plot_lookup.m, MATLAB, 104 lines
- plot_qq_amd.m, MATLAB, 195 lines
- plot_qq_annot.m, MATLAB, 97 lines
- random_prune_idx_amd.m, MATLAB, 30 lines
- random_prune_idx_amd_fb.
m , MATLAB, 74 lines - ref4pleioFDR/
README.sh , Shell, 1 line - ref4pleioFDR/
toolkit/ , Python, 45 linesannot2annomat.py - ref4pleioFDR/
toolkit/ , Python, 187 linesknownGene2annot.py - ref4pleioFDR/
toolkit/ , Python, 114 linesld_informed_annot.py - ref4pleioFDR/
toolkit/ , Python, 79 linesld_informed_annot_4test. py - ref4pleioFDR/
toolkit/ , Python, 52 linessLDSC_scripts.py - ref4pleioFDR/
toolkit/ , Python, 37 linessign_replicate.py - ref4pleioFDR/
toolkit/ , Python, 66 linesuniq_annot.py - run_batch.py, Python, 43 lines
- runme.m, MATLAB, 183 lines
- save_fdr.m, MATLAB, 51 lines
- save_figure.m, MATLAB, 20 lines
- save_to_csv.m, MATLAB, 20 lines
- save_zscore.m, MATLAB, 54 lines
- suplabel.m, MATLAB, 99 lines
- LICENSE, License, 674 lines
- README.md, Text, 195 lines
Code availability statement
The paper has a code availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:
- it points to the authors' code: BioPsyk/
cleansumstats , bulik/ldsc , comorment/ldsc , GenomicSEM/GenomicSEM , precimed/mix3r , precimed/pleiofdr
Read it in the paper: doi.org/10.1038/s43856-026-01510-z.
Tracing map
Proposed by the machine: these links were found in the paper and verified at the source, without human review. The map will receive a Zenodo DOI once one of the paper's authors has validated it with their ORCID.
What the map holds:
- 6 repositories of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
- 303 scripts, each with its path and the digest of its content;
- 4 matches between paragraphs of the paper and lines of the code (method lexical-v1);
- neither the text of the paper nor the code itself.
Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.
Data
No dataset and no data link were found in the paper.
Data availability statement
The paper has a data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:
- it says that the data are available on request
Read it in the paper: doi.org/10.1038/s43856-026-01510-z.
Versions
The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.
Version 1, 27 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 12 authors, 3 keywords, 3 funders, 100 references.
Cite
This paper
Kopal, J., Shadrin, A. A., van der Meer, D., Smeland, O. B., Stinson, S. E., Rødevand, L., Parker, N., O’Connell, K. S., Frei, O., Djurovic, S., Dale, A. M., & Andreassen, O. A. (2026). Mapping genetic convergence across brain structure, mental health, and cardiometabolic disease. Communications medicine, 6(1), 416. https://
BibTeX
@article{kopal2026mappin
author = {Kopal, Jakub and Shadrin, Alexey A and van der Meer, Dennis and Smeland, Olav B and Stinson, Sara E and Rødevand, Linn and Parker, Nadine and O’Connell, Kevin S and Frei, Oleksandr and Djurovic, Srdjan and Dale, Anders M and Andreassen, Ole A},
title = {{Mapping genetic convergence across brain structure, mental health, and cardiometabolic disease}},
journal = {Communications medicine},
year = {2026},
month = jul,
volume = {6},
number = {1},
pages = {416},
publisher = {Nature Publishing Group},
issn = {2730-664X},
doi = {10.1038/
url = {https://
pmid = {42509310},
pmcid = {PMC13407876}
}
RIS
TY - JOUR
AU - Kopal, Jakub
AU - Shadrin, Alexey A
AU - van der Meer, Dennis
AU - Smeland, Olav B
AU - Stinson, Sara E
AU - Rødevand, Linn
AU - Parker, Nadine
AU - O’Connell, Kevin S
AU - Frei, Oleksandr
AU - Djurovic, Srdjan
AU - Dale, Anders M
AU - Andreassen, Ole A
TI - Mapping genetic convergence across brain structure, mental health, and cardiometabolic disease
T2 - Communications medicine
J2 - Commun Med (Lond)
PY - 2026
DA - 2026/
VL - 6
IS - 1
SP - 416
SN - 2730-664X
PB - Nature Publishing Group
DO - 10.1038/
UR - https://
LA - en
ER -
CSL-JSON
{
"id": "10.1038/
"type": "article-journal",
"title": "Mapping genetic convergence across brain structure, mental health, and cardiometabolic disease",
"container-title": "Communications medicine",
"author": [
{
"family": "Kopal",
"given": "Jakub"
},
{
"family": "Shadrin",
"given": "Alexey A"
},
{
"family": "van der Meer",
"given": "Dennis"
},
{
"family": "Smeland",
"given": "Olav B"
},
{
"family": "Stinson",
"given": "Sara E"
},
{
"family": "Rødevand",
"given": "Linn"
},
{
"family": "Parker",
"given": "Nadine"
},
{
"family": "O’Connell",
"given": "Kevin S"
},
{
"family": "Frei",
"given": "Oleksandr"
},
{
"family": "Djurovic",
"given": "Srdjan"
},
{
"family": "Dale",
"given": "Anders M"
},
{
"family": "Andreassen",
"given": "Ole A"
}
],
"container-title-short":
"volume": "6",
"issue": "1",
"page": "416",
"DOI": "10.1038/
"PMID": "42509310",
"PMCID": "PMC13407876",
"ISSN": "2730-664X",
"publisher": "Nature Publishing Group",
"URL": "https://
"language": "en",
"issued": {
"date-parts": [
[
2026,
7,
27
]
]
}
}
The tracing map gets a citation of its own once an author has validated it and it has a DOI.
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Say what each link of this record is, remove the ones that are not the paper's, add the ones that are missing. The correction becomes a new version of the record, in its Versions section.
Validate its tracing map
You validate the map as this page shows it: 6 repositories of the authors' code, each at its verified commit and with its license, 303 scripts, and 4 matches between paragraphs and code (see the Code and Map sections). It then receives a DOI on Zenodo, with you (your ORCID iD) and OSCR as its creators; the code itself is not deposited.
The map's fingerprint: sha256:3053664eb7c038a3…
Add the badge to its README
The badge links the code to this page. Copy one of these into the README of the paper's code: only you decide where it goes, and nothing is changed for you.
Markdown
[, paste the snippet at the top, then “Commit changes…” and, to review it first, “Create a new branch and start a pull request”. You open the pull request; OSCR asks for no permission.
Request its removal
To ask OSCR to remove this record, the copies of its authors' scripts or its tracing map, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).
Discussion, reproductions, activity
Discussion: questions and error reports about this paper and its code, from signed-in readers and its authors. It opens with sign-in.
Reproductions: reports from readers who ran the authors' code: what they reproduced, with which environment, commit and data. It opens with sign-in.
Activity: what happens around this paper: new versions of its record, its map's validation, discussions and reproductions. It opens with sign-in.
