Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans.
The 8 matches
- [1] § Methods › Mendelian randomization ↔ Mendelian Randomization/Bone2Brain.R, lines 100–130 · score 0.93 · MR RAPs, MR Egger, weighted median, simple median, weighted mode, IV
- [2] § Methods › Mendelian randomization ↔ Mendelian Randomization/Bone2Brain.R, lines 100–130 · score 0.85 · RadialMR, egger_radial, ivw_radial, alpha, IVs, exposure
- [3] § Methods › Genomic SEM ↔ R/rgmodel.R, lines 1–35 · score 0.71 · Genomic SEM, genetic covariance matrix, genetic correlation matrix, score regression, latent, LDSC
- [4] § Methods › Genomic SEM ↔ R/paLDSC.R, lines 1–62 · score 0.69 · exploratory factor, genetic correlation matrix, psych, nFactors, parallel, latent
- [5] § Methods › Polygenic risk scores ↔ ldscore/jackknife.py, lines 172–261 · score 0.59 · linear regression, independent variable, squared, Covariates
- [6] § Results › Causal relationships between bone and brain disorders ↔ Mendelian Randomization/Bone2Brain.R, lines 14–21 · score 0.58 · weak instrument bias, Mendelian randomization, brain
- [7] § Methods › Genomic SEM ↔ R/simLDSC.R, lines 61–120 · score 0.52 · MHC region, Genomic SEM, LDSC, score, modeling, matrix
- [8] § Methods › Mendelian randomization ↔ Mendelian Randomization/Bone2Brain.R, lines 23–98 · score 0.51 · Mendelian randomization, IVs, exposure, r2, MR, GWAS
Paper
Loaded from Europe PMC by your browser, not stored by OSCR: doi.org · Europe PMC
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The authors' code
R · 130 lines · 4.7 KB · no license · 4 matches
- library(data.table)
- library(dplyr)
- library(stringr)
- library(TwoSampleMR)
- library(RadialMR)
- library(mr.raps)
- library(ieugwasr)
- library(plinkbinr)
- ####Define Function####
- source("/mr_modified.R") # The mr-raps cannot not be conducted in the original function; derived from https://github.com/linjf15/MR_tricks
- source("/MRFindEAF.R") # Find effect allele frequency; derived from https://github.com/linjf15/MR_tricks
- Prepro <- function(data, threshold_GWAS) {
- if ("pval.exposure" %in% names(data)) {
- data <- data[data$MAF >= 0.01 & (data$beta.exposure^2 / data$se.exposure^2) > 10, ] # Reduce weak instrument bias
- } else if ("pval.outcome" %in% names(data)) {
- data <- data[data$pval.outcome > threshold_GWAS, ] # remove the variants strongly associated with outcomes, reducing false positive
- }
- return(data)
- }
- Plink <- get_plink_exe() # Get LD matrix using local plink binary and reference dataset
- ####Define path####
- Exposure_Dir <- "path to Exposure files"
- Outcome_Dir <- "path to Outcome files"
- Output_Dir <- 'path to save MR estimate results'
- ScalePara <- readRDS('Path to Scale files') # Scale beta and SE of bone measures based on phenotypes'SD
- #### Define Parameter####
- threshold_GWAS <- 5e-8 # Threshold for IVs
- ####Run####
- filenamesBone <- list.files(path = Exposure_Dir, pattern = "*.txt")
- filenamesBrainTraits <- list.files(path = Outcome_Dir, pattern = "*.txt")
- epoch = 1
- for (exposure_index in filenamesBone) {
- exposure <- fread(str_c(Exposure_Dir,exposure_index))
- setnames(exposure, new = c('pval'), old = c('P_value'))
- exposure <- exposure[which(exposure$pval < threshold_GWAS),]
- exposure$rsid <- exposure$ID
- ## Scale Beta and SE of bone measures
- Scale_SD <- subset(ScalePara,ScalePara==str_extract(exposure_index,"\\d+"))$SD
- exposure$BETA <- exposure$BETA/Scale_SD; exposure$SE = exposure$SE/Scale_SD;
- ## Clumping
- exposure <- ld_clump(
- exposure,
- clump_kb = 1000,
- clump_r2 = 0.001,
- plink_bin = Plink,
- bfile = "/1kgClump/EUR" #use local file in case of network block
- )
- exposure <- as.data.frame(exposure)
- exposure <- format_data(
- dat= exposure,
- type= "exposure",
- header = TRUE,
- snp_col = "rsid",
- beta_col = "BETA",
- se_col = "SE",
- pval_col = "pval",
- effect_allele_col = "ALLELE1",
- other_allele_col = "ALLELE0",
- eaf_col = "A1FREQ",
- chr_col = "CHROM",
- pos_col = "GENPOS"
- )
- exposure$MAF <- ifelse(exposure$eaf.exposure > .5, 1-exposure$eaf.exposure, exposure$eaf.exposure)
- exposure <- Prepro(exposure,threshold_GWAS)
- for (outcome_index in filenamesBrainTraits) {
- Outcome <- fread(str_c(Outcome_Dir,outcome_index),fill = TRUE)
- Outcome <- Outcome[Outcome$snpid %in% exposure$SNP,]
- Outcome$pval <- as.numeric(Outcome$pval)
- Outcome <- as.data.frame(Outcome)
- Outcome <- format_data(
- dat= Outcome,
- type= "outcome",
- header = TRUE,
- snp_col = "snpid",
- beta_col = "beta",
- se_col = "se",
- pval_col = "pval",
- effect_allele_col = "A1",
- other_allele_col = "A2",
- eaf_col = "A1fre"
- )
- if (any(is.na(Outcome$eaf.outcome))){Outcome = snp_add_eaf(Outcome)}
- Outcome <- Prepro(Outcome,threshold_GWAS)
- ## Harmonise
- mydata <- harmonise_data(
- exposure_dat= exposure,
- outcome_dat= Outcome,
- action= 2)
- ## Remove outliers using RadialMR
- outliers <- ivw_radial(r_input = mydata, alpha = 0.05, weights = 1, tol = 0.0001, summary = TRUE)
- mydata <- mydata[!(mydata$SNP %in% outliers[["outliers"]][["SNP"]]),]
- outliers <- egger_radial(r_input = mydata, alpha = 0.05, weights = 1, summary = TRUE)
- mydata <- mydata[!(mydata$SNP %in% outliers[["outliers"]][["SNP"]]),]
- ## IVW-random effect when IVs more than 3, otherwise -fix effect
- if (nrow(mydata)>3){ res <- mr_modified(mydata,method_list = c("mr_ivw_mre","mr_egger_regression", "mr_raps",
- "mr_simple_median","mr_weighted_median","mr_penalised_weighted_median",
- "mr_simple_mode","mr_weighted_mode","mr_simple_mode_nome","mr_weighted_mode_nome") )
- } else if (nrow(mydata)>1) {
- res <- mr_modified(mydata,method_list = c("mr_ivw_fe","mr_egger_regression", "mr_raps",
- "mr_simple_median","mr_weighted_median","mr_penalised_weighted_median",
- "mr_simple_mode","mr_weighted_mode","mr_simple_mode_nome","mr_weighted_mode_nome"))
- } else {
- res <- mr_modified(mydata,method_list = c("mr_wald_ratio"))} # note: MR estimate with only 1 IV will not be considered
- epoch <- epoch+1
- }
- }
Bone2Brain.R at commit bb3e75c, no license · at the source
Overview
- State Key Laboratory of Cognitive Science and Mental Health, Institute of Psychology, Chinese Academy of Sciences,Beijing, China
- Department of Psychology, University of Chinese Academy of Sciences,Beijing, China
- Leonard Davis School of Gerontology, University of Southern California,Los Angeles, CA USA
- Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital,Boston, MA USA
- Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital,Boston, MA USA
- Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard,Cambridge, MA 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 8 matches between paragraphs and lines of code.
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, 1 match - 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
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, 1 match - 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, 1 match - 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 - 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
tulab-brain/Bone-Brain-connections
bb3e75ce1e3069324131703714eb09e2320639c2, 27 May 2026Availability: 1 check, the latest on 28 September 2026: the link answers
- 28 September 2026: the link answers
6 files
- Genetic Correlation/
gc_Bone_BoneTrait.sh , Shell, 29 lines - GenomicSEM/
GenomicSEMcode.R , R, 43 lines - Heritability/
GCTA_batch_full.sh , Shell, 17 lines - Mendelian Randomization/
Bone2Brain.R , R, 130 lines, 4 matches - Phenotypic Correlation/
Pheno_assoc.R , R, 41 lines - README.md, Text, 16 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: tulab-brain/
Bone-Brain-connections
Read it in the paper: doi.org/10.1038/s41467-026-73428-y.
Tracing map
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- 8 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
Datasets cited
- zenodo:17966320, at Zenodo; found in “Data availability”
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 points to a dataset: Zenodo 17966320
Read it in the paper: doi.org/10.1038/s41467-026-73428-y.
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 2, 28 September 2026
- Funding: added China Association for Science and Technology: E1KX0210; National Natural Science Foundation of China: 32171078, E2CX4015, 32322035; Chinese Academy of Sciences: E0CX5210, E2CX4015; Institute of Psychology, Chinese Academy of Sciences
Version 1, 28 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 7 authors, 3 keywords, 12 MeSH terms, 144 references.
Cite
This paper
Zhao, L., Tang, Y., Zhao, W., Li, S., Chen, J., Ge, T., & Tu, Y. (2026). Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans. Nature communications, 17(1), 6789. https://
BibTeX
@article{zhao2026regiona
author = {Zhao, Lei and Tang, Yilan and Zhao, Wenhui and Li, Shijiani and Chen, Jie and Ge, Tian and Tu, Yiheng},
title = {{Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans}},
journal = {Nature communications},
year = {2026},
month = may,
volume = {17},
number = {1},
pages = {6789},
publisher = {Nature Publishing Group},
issn = {2041-1723},
doi = {10.1038/
url = {https://
pmid = {42185266},
pmcid = {PMC13385815}
}
RIS
TY - JOUR
AU - Zhao, Lei
AU - Tang, Yilan
AU - Zhao, Wenhui
AU - Li, Shijiani
AU - Chen, Jie
AU - Ge, Tian
AU - Tu, Yiheng
TI - Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans
T2 - Nature communications
J2 - Nat Commun
PY - 2026
DA - 2026/
VL - 17
IS - 1
SP - 6789
SN - 2041-1723
PB - Nature Publishing Group
DO - 10.1038/
UR - https://
LA - en
ER -
CSL-JSON
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