Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.
The 27 matches · 10 of them tie a paragraph to a whole file, not to given lines: weak matches, whose lines are not tinted
- [1] § Methods › Weighted gene co-expression network analysis (WGCNA) ↔ RNA_seq_analysis/utils/WGCNA.R, lines 57–107 · score 0.91 · TOMType, mergeCutHeight, minModuleSize, pickSoftThreshold, signed hybrid, WGCNA
- [2] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_CNV/6_region_filter.sh, the whole file · a weak match · score 0.85 · UCSC Unusual Regions, GRC Exclusions, ENCODE Blacklist, centromeres, gnomAD, CNVs
- [3] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_STR/4_locus_filter.sh, the whole file · a weak match · score 0.83 · dumpSTR, ensemblTR, low quality, locus, MergeSTR, Browser
- [4] § Methods › Detection of alternative isoform usage ↔ RNA_seq_analysis/utils/IsoformSwitchAnalyzeR.R, lines 1–46 · score 0.78 · Isoform switches, importIsoformExpression, prefilter, imported, Kallisto, gene expression
- [5] § Results › Combined effects on gene expression related to neurodevelopment ↔ WGS_analysis/utils/Fisher_exact_test_rare_variant.py, lines 61–90 · score 0.78 · confidence intervals, outlier expression, odds ratio, RNA seq, rare variants, CI
- [6] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_SNV/2_GATK_preprocessing.sh, lines 112–172 · score 0.76 · quality score recalibration, MarkDuplicates, GATK, indels, SNVs, sequences
- [7] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_SNV/9_organize_variants.py, lines 116–126 · score 0.76 · splice LOF, noncoding variants, missense, MutationAssessor, UTR, intron
- [8] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_STR/2_dumpstr.sh, the whole file · a weak match · score 0.74 · badCI, dumpSTR, spanbound, GangSTR, DP, VCF
- [9] § Results › Variable neural phenotypes across genetic backgrounds ↔ Figure_code/utils/generate_heatmap.R, lines 199–285 · score 0.70 · GL_007, CRISPR deletion, DLX1, LHX6, LHX8, GABA
- [10] § Methods › RNA-sequencing sample processing and analysis ↔ Figure_code/utils/volcanoplot.R, the whole file · a weak match · score 0.70 · EEF2K, POLR3E, DESeq2, PDZD9, CDR2, UQCRC2
- [11] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_CNV/4_download_regions.sh, the whole file · a weak match · score 0.69 · UCSC Genome Browser, low confidence, centromeres, bin, CNVs, WGS
- [12] § Results › Connectivity of genes with secondary variants in PPI network ↔ Figure_code/utils/densityplot.R, the whole file · a weak match · score 0.68 · Anderson Darling, P1C_077, p1C_007, P2C_079, Density, POLR3E
- [13] § Methods › Protein-protein interaction network analysis ↔ Figure_code/utils/densityplot.R, the whole file · a weak match · score 0.65 · Anderson Darling, ad.test, density
- [14] § Results › Connectivity of genes with secondary variants in PPI network ↔ Figure_code/utils/generate_dotplot.R, lines 173–211 · score 0.65 · P1C_077, P1C_007, P2C_079, polr3e, UQCRC2, MOSMO
- [15] § Results › CRISPR activation of individual 16p12.1 genes reverses transcriptomic and neural defects ↔ Figure_code/utils/generate_dotplot.R, lines 173–211 · score 0.63 · P1C_077, P1C_007, P2C_079, polr3e, MOSMO
- [16] § Methods › ATAC-seq peak annotation ↔ ATAC_seq_analysis/utils/get_nearest_gene.py, lines 18–24 · score 0.62 · nearest gene, ATAC seq, closest, GENCODE, Pybedtools, peaks
- [17] § Results › Variable neural phenotypes across genetic backgrounds ↔ RNA_seq_analysis/utils/WGCNA.R, lines 109–175 · score 0.62 · eigengene scores, gene modules, RNA seq, weighted, WGCNA, models
- [18] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_STR/6_annovar.sh, the whole file · a weak match · score 0.61 · Func.wgEncodeGencodeBasicV38, ANNOVAR, Genic, exonic, Alleles, loci
- [19] § Results › CRISPR activation of individual 16p12.1 genes reverses transcriptomic and neural defects ↔ Figure_code/utils/generate_heatmap.R, lines 2–57 · score 0.60 · cytokine signaling, signaling pathways, interferon, Wnt, immune, TGF
- [20] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/Fisher_exact_test_QTL.r, lines 123–239 · score 0.59 · regression slopes, PsychENCODE, GTEx, eQTLs, WGS, gene
- [21] § Methods › ATAC-seq sample processing and analysis ↔ ATAC_seq_analysis/utils/run_mea_homer.sh, the whole file · a weak match · score 0.58 · findMotifsGenome.pl, ATAC seq, HOMER, peaks
- [22] § Methods › Whole genome sequencing (WGS) sample processing and analysis ↔ WGS_analysis/utils/call_STR/7_finalize_strs.py, lines 5–11 · score 0.55 · intronic, ANNOVAR, UTR3, UTR5, exonic, func
- [23] § Methods › RNA-sequencing sample processing and analysis ↔ RNA_seq_analysis/utils/doTrimmomatic.sh, the whole file · a weak match · score 0.55 · Trimmomatic, slidingwindow, trailing, minlen, Illumina, trimming
- [24] § Results › Combined effects on gene expression related to neurodevelopment ↔ Figure_code/utils/generate_heatmap.R, lines 199–285 · score 0.54 · CRISPR control, CRISPR deletion, DLX5, iMN, HD, DEGs
- [25] § Methods › Analysis of combined effects on gene expression ↔ WGS_analysis/utils/Fisher_exact_test_rare_variant.py, lines 61–90 · score 0.54 · outlier expression, Rare variants, TPM, MN, DEGs, genes
- [26] § Methods › Weighted gene co-expression network analysis (WGCNA) ↔ RNA_seq_analysis/utils/WGCNA.R, lines 109–175 · score 0.53 · module eigengene scores, Weighted, WGCNA, network
- [27] § Results › Variable neural phenotypes across genetic backgrounds ↔ Figure_code/utils/barplot.R, lines 62–133 · score 0.51 · chase hours, positive cells, backgrounds
Paper
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The authors' code
R · 176 lines · 5.5 KB · GPL-3.0 · 3 matches
- library(WGCNA)
- library(FactoMineR)
- library(factoextra)
- library(tidyverse)
- library(data.table)
- enableWGCNAThreads(nThreads = 0.75*parallel::detectCores())
- tpm <- family_npc_counts_tpm #input tpm
- datTraits <- datTraits_npc # input sample information
- data <- log2(tpm+1)
- keep_data <- data[order(apply(data,1,mad), decreasing = T)[1:10000],]
- datExpr0 <- as.data.frame(t(keep_data))
- #quality_check
- sampleTree <- hclust(dist(datExpr0), method = "average")
- par(mar = c(0,5,2,0))
- plot(sampleTree, main = "Sample clustering", sub="", xlab="", cex.lab = 2,
- cex.axis = 1, cex.main = 1,cex.lab=1)
- sample_colors <- numbers2colors(as.numeric(factor(datTraits$group)),
- colors = rainbow(length(table(datTraits$group))),
- signed = FALSE)
- par(mar = c(1,4,3,1),cex=0.8)
- pdf("Sample dendrogram and trait.pdf",width = 8,height = 6)
- plotDendroAndColors(sampleTree, sample_colors,
- groupLabels = "trait",
- cex.dendroLabels = 0.8,
- marAll = c(1, 4, 3, 1),
- cex.rowText = 0.01,
- main = "Sample dendrogram and trait" )
- dev.off()
- group_list <- datTraits$group
- dat.pca <- PCA(datExpr0, graph = F)
- pca <- fviz_pca_ind(dat.pca,
- title = "Principal Component Analysis",
- legend.title = "Groups",
- geom.ind = c("point","text"), #"point","text"
- pointsize = 2,
- labelsize = 4,
- repel = TRUE,
- col.ind = group_list,
- axes.linetype=NA, # remove axeslines
- mean.point=F
- ) +
- theme(legend.position = "none")+ # "none" REMOVE legend
- coord_fixed(ratio = 1)
- pca
- ggsave(pca,filename= "Sample PCA analysis.pdf", width = 8, height = 8)
- datExpr <- datExpr0
- nGenes <- ncol(datExpr)
- nSamples <- nrow(datExpr)
- #pick_power_for_unsigend
- R.sq_cutoff = 0.8
- if(T){
- # Call the network topology analysis function
- powers <- c(seq(1,20,by = 1), seq(22,30,by = 2))
- sft <- pickSoftThreshold(datExpr,
- networkType = "unsigned",# can also be signed or signed hybrid
- powerVector = powers,
- RsquaredCut = R.sq_cutoff,
- verbose = 5)
- #SFT.R.sq > 0.8 , slope ≈ -1
- pdf("power-value_unsigned.pdf",width = 16,height = 12)
- par(mfrow = c(1,2));
- cex1 = 0.9;
- # Scale-free topology fit index as a function of the soft-thresholding power
- plot(sft$fitIndices[,1], -sign(sft$fitIndices[,3])*sft$fitIndices[,2],
- xlab="Soft Threshold (power)",ylab="Scale Free Topology Model Fit,signed R^2",type="n")
- text(sft$fitIndices[,1], -sign(sft$fitIndices[,3])*sft$fitIndices[,2],
- labels=powers,cex=cex1,col="red")
- # this line corresponds to using an R^2 cut-off of h
- abline(h=R.sq_cutoff ,col="red")
- # Mean connectivity as a function of the soft-thresholding power
- plot(sft$fitIndices[,1], sft$fitIndices[,5],
- xlab="Soft Threshold (power)",ylab="Mean Connectivity", type="n")
- text(sft$fitIndices[,1], sft$fitIndices[,5], labels=powers, cex=cex1,col="red")
- abline(h=100,col="red")
- dev.off()
- }
- power = sft$powerEstimate
- #build_network
- allowWGCNAThreads()
- net <- blockwiseModules(
- datExpr,
- power = power,
- maxBlockSize = ncol(datExpr),
- corType = "pearson",
- networkType = "unsigned", #use signed or signed hybrid with the setting when picking power.
- TOMType = "unsigned",
- minModuleSize = 100,
- mergeCutHeight = 0.25,
- numericLabels = TRUE,
- saveTOMs = F,
- verbose = 3
- )
- table(net$colors)
- # Convert labels to colors for plotting
- moduleColors <- labels2colors(net$colors)
- table(moduleColors)
- # Plot the dendrogram and the module colors underneath
- pdf("genes-modules_ClusterDendrogram_unsigned.pdf",width = 16,height = 12)
- plotDendroAndColors(net$dendrograms[[1]], moduleColors[net$blockGenes[[1]]],
- "Module colors",
- dendroLabels = FALSE, hang = 0.03,
- addGuide = TRUE, guideHang = 0.05)
- dev.off()
- gene_module <- data.frame(gene=colnames(datExpr),
- module=moduleColors)
- write.csv(gene_module,file = "gene_moduleColors_unsigned.csv",row.names = F)
- MES0 <- moduleEigengenes(datExpr, moduleColors)$eigengnes #calculate the eigengene score
- MEs_unsigned <- orderMEs(MES0) #put close eigenvectors next to each other
- write.csv(MEs_unsigned,file = "MEs_unsigned.csv")
- #draw heatmap using MEs such as Suppfig 6b
- datTraits$group <- as.factor(datTraits$group)
- design <- model.matrix(~0+datTraits$group)
- colnames(design) <- levels(datTraits$group) #get the group
- MES0 <- moduleEigengenes(datExpr,moduleColors)$eigengenes #Calculate module eigengenes.
- MEs <- orderMEs(MES0) #Put close eigenvectors next to each other
- moduleTraitCor <- cor(MEs,design,use = "p")
- moduleTraitPvalue <- corPvalueStudent(moduleTraitCor,nSamples)
- textMatrix <- paste0(signif(moduleTraitCor,2),"\n(",
- signif(moduleTraitPvalue,1),")")
- dim(textMatrix) <- dim(moduleTraitCor)
- pdf("step4_Module-trait-relationship_heatmap.pdf",
- width = 2*length(colnames(design)),
- height = 0.6*length(names(MEs)) )
- par(mar=c(5, 9, 3, 3))
- labeledHeatmap(Matrix = moduleTraitCor,
- xLabels = colnames(design),
- yLabels = names(MEs),
- ySymbols = names(MEs),
- colorLabels = F,
- colors = blueWhiteRed(50),
- textMatrix = textMatrix,
- setStdMargins = F,
- cex.text = 0.5,
- zlim = c(-1,1),
- main = "Module-trait relationships")
- dev.off()
- #output files for cytoscape such as Suppfig 11b
- gene <- colnames(datExpr)
- inModule <- moduleColors==module #input module color of interest
- modgene <- gene[inModule]
- TOM <- TOMsimilarityFromExpr(datExpr,power=power)
- modTOM <- TOM[inModule,inModule]
- dimnames(modTOM) <- list(modgene,modgene)
- nTop = 100
- IMConn = softConnectivity(datExpr[, modgene]) #calculate connectivity
- top = (rank(-IMConn) <= nTop) #filter for the top
- filter_modTOM <- modTOM[top, top]
- cyt <- exportNetworkToCytoscape(filter_modTOM,
- edgeFile = paste("CytoscapeInput-edges-", paste(module, collapse="-"), ".txt", sep=""),
- nodeFile = paste("CytoscapeInput-nodes-", paste(module, collapse="-"), ".txt", sep=""),
- weighted = TRUE,
- threshold = 0.15, #can be changed
- nodeNames = modgene[top],
- nodeAttr = moduleColors[inModule][top])
WGCNA.R at commit a20e59e, under GPL-3.0 · at the source
Overview
- Department of Biochemistry and Molecular Biology, Pennsylvania State University,University Park, PA USA
- Huck Institutes of the Life Sciences, University Park, PA USA
- Department of Paediatrics, University of Melbourne,Parkville, VIC Australia
- Bruce Lefroy Centre, Murdoch Children’s Research Institute,Parkville, VIC Australia
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 27 matches between paragraphs and lines of code.
ENCODE-DCC/atac-seq-pipeline
47ba8dff9c332e24b48e767303e9fcac98589cf2, 15 February 2024Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
56 files
- dev/
build_on_dx_dockerhub.sh , Shell, 60 lines - dev/
test/ , Shell, 15 linesrun_cromwell_server_on_g c.sh - dev/
test/ , Python, 1 linetest_py/ __init__.py - dev/
test/ , Shell, 3 linestest_workflow/ ref_output/ sync.sh - scripts/
build_genome_data.sh , Shell, 351 lines - scripts/
download_genome_data.sh , Shell, 297 lines - scripts/
install_conda_env.sh , Shell, 88 lines - scripts/
uninstall_conda_env.sh , Shell, 12 lines - scripts/
update_conda_env.sh , Shell, 21 lines - src/
assign_multimappers.py , Python, 73 lines - src/
detect_adapter.py , Python, 84 lines - src/
dev_check_sync_atac.sh , Shell, 21 lines - src/
encode_lib_blacklist_fil , Python, 117 linester.py - src/
encode_lib_common.py , Python, 399 lines - src/
encode_lib_frip.py , Python, 114 lines - src/
encode_lib_genomic.py , Python, 767 lines - src/
encode_lib_log_parser.py , Python, 660 lines - src/
encode_lib_qc_category.p , Python, 259 linesy - src/
encode_task_annot_enrich , Python, 109 lines.py - src/
encode_task_bam2ta.py , Python, 163 lines - src/
encode_task_bam_to_pbam. , Python, 64 linespy - src/
encode_task_bowtie2.py , Python, 192 lines - src/
encode_task_bwa.py , Python, 280 lines - src/
encode_task_choose_ctl.p , Python, 181 linesy - src/
encode_task_compare_sign , Python, 137 linesal_to_roadmap.py - src/
encode_task_count_signal , Python, 115 lines_track.py - src/
encode_task_filter.py , Python, 438 lines - src/
encode_task_frac_mito.py , Python, 86 lines - src/
encode_task_fraglen_stat , Python, 244 lines_pe.py - src/
encode_task_gc_bias.py , Python, 143 lines - src/
encode_task_idr.py , Python, 213 lines - src/
encode_task_jsd.py , Python, 133 lines - src/
encode_task_macs2_atac.p , Python, 139 linesy - src/
encode_task_macs2_chip.p , Python, 172 linesy - src/
encode_task_macs2_signal , Python, 190 lines_track_atac.py - src/
encode_task_macs2_signal , Python, 215 lines_track_chip.py - src/
encode_task_merge_fastq. , Python, 105 linespy - src/
encode_task_overlap.py , Python, 178 lines - src/
encode_task_pool_ta.py , Python, 76 lines - src/
encode_task_post_align.p , Python, 92 linesy - src/
encode_task_post_call_pe , Python, 104 linesak_atac.py - src/
encode_task_post_call_pe , Python, 107 linesak_chip.py - src/
encode_task_preseq.py , Python, 174 lines - src/
encode_task_qc_report.py , Python, 941 lines - src/
encode_task_reproducibil , Python, 204 linesity.py - src/
encode_task_spp.py , Python, 133 lines - src/
encode_task_spr.py , Python, 176 lines - src/
encode_task_subsample_ct , Python, 66 linesl.py - src/
encode_task_trim_adapter , Python, 214 lines.py - src/
encode_task_trim_fastq.p , Python, 73 linesy - src/
encode_task_trimmomatic. , Python, 204 linespy - src/
encode_task_tss_enrich.p , Python, 178 linesy - src/
encode_task_xcor.py , Python, 156 lines - src/
trimfastq.py , Python, 255 lines - LICENSE, License, 21 lines
- README.md, Text, 184 lines
Jiawan1023/iPSC_integrated_framework
a20e59e0560420e7a9048334f9541f40ff4c16e3, 2 April 2026Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
58 files
- ATAC_seq_analysis/
utils/ , R, 88 linesDEseq2_ATAC.R - ATAC_seq_analysis/
utils/ , Python, 24 lines, 1 matchget_nearest_gene.py - ATAC_seq_analysis/
utils/ , Perl, 50 linesmakeATACTable.pl - ATAC_seq_analysis/
utils/ , Shell, 33 linesrun_deeptools.sh - ATAC_seq_analysis/
utils/ , Shell, 17 lines, 1 matchrun_mea_homer.sh - Enrichment_analysis/
utils/ , R, 86 linesEnrichment_disgenet.R - Enrichment_analysis/
utils/ , R, 81 linesEnrichment_in_published_ datasets.R - Enrichment_analysis/
utils/ , R, 55 linesGSEA.R - Enrichment_analysis/
utils/ , R, 155 linesORA_enrichment.R - Figure_code/
utils/ , R, 133 lines, 1 matchbarplot.R - Figure_code/
utils/ , R, 42 lines, 2 matchesdensityplot.R - Figure_code/
utils/ , R, 309 lines, 2 matchesgenerate_dotplot.R - Figure_code/
utils/ , R, 292 lines, 3 matchesgenerate_heatmap.R - Figure_code/
utils/ , Python, 47 lineslineplot.py - Figure_code/
utils/ , R, 41 linesupsetplot.R - Figure_code/
utils/ , R, 29 linesviolinplot.R - Figure_code/
utils/ , R, 44 lines, 1 matchvolcanoplot.R - RNA_seq_analysis/
utils/ , R, 143 linesDEseq2.R - RNA_seq_analysis/
utils/ , R, 115 lines, 1 matchIsoformSwitchAnalyzeR.R - RNA_seq_analysis/
utils/ , R, 176 lines, 3 matchesWGCNA.R - RNA_seq_analysis/
utils/ , Shell, 31 linesdoKallisto.sh - RNA_seq_analysis/
utils/ , Shell, 54 lines, 1 matchdoTrimmomatic.sh - RNA_seq_analysis/
utils/ , R, 24 linesrawcounts_to_TPMandFPKM. R - RNA_seq_analysis/
utils/ , R, 118 linestximport.R - WGS_analysis/
utils/ , R, 349 lines, 1 matchFisher_exact_test_QTL.r - WGS_analysis/
utils/ , Python, 150 lines, 2 matchesFisher_exact_test_rare_v ariant.py - WGS_analysis/
utils/ , R, 56 linesGene_interaction_analysi s/ 1_get_variant.R - WGS_analysis/
utils/ , Python, 115 linesGene_interaction_analysi s/ 2_get_interaction_genes. py - WGS_analysis/
utils/ , Python, 349 linesGene_interaction_analysi s/ 3_overlap_with_atac.py - WGS_analysis/
utils/ , Python, 33 linescall_CNV/ 0_create_pytor_object.py - WGS_analysis/
utils/ , Python, 39 linescall_CNV/ 10_organize_cnv.py - WGS_analysis/
utils/ , Python, 28 linescall_CNV/ 1_call_cnvs.py - WGS_analysis/
utils/ , Python, 87 linescall_CNV/ 2_get_breakpoints_500_ba se_pairs.py - WGS_analysis/
utils/ , Python, 63 linescall_CNV/ 3_get_upstream_downstrea m.py - WGS_analysis/
utils/ , Shell, 14 lines, 1 matchcall_CNV/ 4_download_regions.sh - WGS_analysis/
utils/ , Shell, 69 linescall_CNV/ 5_gnomad_filter.sh - WGS_analysis/
utils/ , Shell, 50 lines, 1 matchcall_CNV/ 6_region_filter.sh - WGS_analysis/
utils/ , Python, 95 linescall_CNV/ 7_merge_CNV.py - WGS_analysis/
utils/ , Shell, 43 linescall_CNV/ 8_intracohort_gene_anno. sh - WGS_analysis/
utils/ , Python, 88 linescall_CNV/ 9_parse_CNV.py - WGS_analysis/
utils/ , Python, 72 linescall_SNV/ 1_organize_data.py - WGS_analysis/
utils/ , Shell, 209 lines, 1 matchcall_SNV/ 2_GATK_preprocessing.sh - WGS_analysis/
utils/ , Shell, 100 linescall_SNV/ 3_GATK_HaplotypeCaller.s h - WGS_analysis/
utils/ , Shell, 56 linescall_SNV/ 4_GATK_JointGenotyping.s h - WGS_analysis/
utils/ , Shell, 76 linescall_SNV/ 5_GATK_JointMerge.sh - WGS_analysis/
utils/ , Shell, 28 linescall_SNV/ 6_create_hail_matrix_tab le.sh - WGS_analysis/
utils/ , Shell, 30 linescall_SNV/ 7_VEP_annotation.sh - WGS_analysis/
utils/ , Shell, 32 linescall_SNV/ 8_hail2table.sh - WGS_analysis/
utils/ , Python, 137 lines, 1 matchcall_SNV/ 9_organize_variants.py - WGS_analysis/
utils/ , Shell, 39 linescall_STR/ 1_gangstr.sh - WGS_analysis/
utils/ , Shell, 42 lines, 1 matchcall_STR/ 2_dumpstr.sh - WGS_analysis/
utils/ , Shell, 40 linescall_STR/ 3_mergestr.sh - WGS_analysis/
utils/ , Shell, 76 lines, 1 matchcall_STR/ 4_locus_filter.sh - WGS_analysis/
utils/ , Python, 123 linescall_STR/ 5_filter_loci.py - WGS_analysis/
utils/ , Shell, 64 lines, 1 matchcall_STR/ 6_annovar.sh - WGS_analysis/
utils/ , Python, 148 lines, 1 matchcall_STR/ 7_finalize_strs.py - LICENSE, License, 674 lines
- README.md, Text, 83 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: Jiawan1023/
iPSC_integrated_framewor k
Read it in the paper: doi.org/10.1038/s41467-026-72598-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:
- 2 repositories of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
- 110 scripts, each with its path and the digest of its content;
- 27 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
- geo:GSE52457, at NCBI GEO; found in “Data availability”
- ncbi.nlm.nih.gov/
projects/ , at NCBI; found in “Data availability”gap
Code and data availability statement
The paper has a code and 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 2 datasets: NCBI GEO GSE52457, ncbi.nlm.nih.gov/
projects/ gap - it points to the authors' code: Jiawan1023/
iPSC_integrated_framewor k
Read it in the paper: doi.org/10.1038/s41467-026-72598-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, 13 MeSH terms, 2 funders, 136 references, 3 RRIDs.
Cite
This paper
Sun, J., Noss, S., Smolen, C., Bhavana, V. H., Banerjee, D., Das, M., Giardine, B., Prabhu, A., Amor, D. J., Pope, K., Lockhart, P. J., & Girirajan, S. (2026). Functional impact of genetic background on variable expressivity in neurodevelopmental disorders. Nature communications, 17(1), 5917. https://
BibTeX
@article{sun2026function
author = {Sun, Jiawan and Noss, Serena and Smolen, Corrine and Bhavana, Venkata Hemanjani and Banerjee, Deepro and Das, Maitreya and Giardine, Belinda and Prabhu, Anisha and Amor, David J. and Pope, Kate and Lockhart, Paul J. and Girirajan, Santhosh},
title = {{Functional impact of genetic background on variable expressivity in neurodevelopmental disorders}},
journal = {Nature communications},
year = {2026},
month = may,
volume = {17},
number = {1},
pages = {5917},
publisher = {Nature Publishing Group},
issn = {2041-1723},
doi = {10.1038/
url = {https://
pmid = {42062284},
pmcid = {PMC13338134}
}
RIS
TY - JOUR
AU - Sun, Jiawan
AU - Noss, Serena
AU - Smolen, Corrine
AU - Bhavana, Venkata Hemanjani
AU - Banerjee, Deepro
AU - Das, Maitreya
AU - Giardine, Belinda
AU - Prabhu, Anisha
AU - Amor, David J.
AU - Pope, Kate
AU - Lockhart, Paul J.
AU - Girirajan, Santhosh
TI - Functional impact of genetic background on variable expressivity in neurodevelopmental disorders
T2 - Nature communications
J2 - Nat Commun
PY - 2026
DA - 2026/
VL - 17
IS - 1
SP - 5917
SN - 2041-1723
PB - Nature Publishing Group
DO - 10.1038/
UR - https://
LA - en
ER -
CSL-JSON
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"given": "Jiawan"
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{
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"given": "Paul J."
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{
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}
],
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"DOI": "10.1038/
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"publisher": "Nature Publishing Group",
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"language": "en",
"issued": {
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}
}
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