OSCR

Segmentally Duplicated Regulatory Elements Undergo Human-Specific Rewiring.

Code ↔ Paper

5 matches between paragraphs of the paper and lines of its authors' code, computed by the harvester (lexical-v1). Click a colored paragraph or line to see its counterpart.

The 5 matches · 2 of them tie a paragraph to a whole file, not to given lines: weak matches, whose lines are not tinted
  1. [1] § Methods › Transcription factor binding motif enrichment ↔ cmd/tfMatch/tfMatch.go, the whole file · a weak match · score 0.77 · tfMatch, Position Frequency Matrices, minimum motif, PFMs, JASPAR, probability
  2. [2] § Methods › Alignment of paralogous SD ↔ cmd/faFormat/faFormat.go, lines 127–189 · score 0.66 · revComp, faFormat, reverse complement, fasta, chromosome, sequence
  3. [3] § Methods › Transcription factor binding motif enrichment ↔ cmd/tfMatchComp/tfMatchComp.go, the whole file · a weak match · score 0.62 · Position Frequency Matrices, minimum motif, PFMs, matches, Fasta, probability
  4. [4] § Methods › Self-alignment of hs1 human genome ↔ cmd/cigarToBed/cigarToBed.go, lines 64–129 · score 0.59 · human chimp, scoring matrix, UCSC, Browser, chromosome, genome
  5. [5] § Methods › Self-alignment of hs1 human genome ↔ cmd/globalAlignmentAnchor/globalAlignmentAnchor.go, lines 351–423 · score 0.56 · human chimp, scoring matrix, species, alignment, genome, sequence

Paper

Loaded from Europe PMC by your browser, not stored by OSCR: doi.org · Europe PMC

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The authors' code

Go · 88 lines · 3 KB · BSD-3-Clause · 1 match

  1. package main
  2. import (
  3. "flag"
  4. "fmt"
  5. "github.com/vertgenlab/gonomics/fasta"
  6. "github.com/vertgenlab/gonomics/motif"
  7. "log"
  8. )
  9. type Settings struct {
  10. InFile string
  11. MatrixFile string
  12. OutFile string
  13. MatrixFileType string
  14. PropMatch float64
  15. Pseudocounts float64
  16. OutputAsProportion bool
  17. GcContent float64
  18. }
  19. func tfMatch(s Settings) {
  20. records := fasta.Read(s.InFile)
  21. fasta.AllToUpper(records)
  22. motifs := motif.ReadJaspar(s.MatrixFile, s.MatrixFileType)
  23. switch s.MatrixFileType {
  24. case "Frequency":
  25. motifs = motif.ReadJaspar(s.MatrixFile, "Frequency")
  26. motifs = motif.PfmSliceToPpmSlice(motifs, s.Pseudocounts)
  27. motifs = motif.PpmSliceToPwmSlice(motifs, s.GcContent)
  28. case "Probability":
  29. motifs = motif.ReadJaspar(s.MatrixFile, "Probability")
  30. motifs = motif.PpmSliceToPwmSlice(motifs, s.GcContent)
  31. case "Weight":
  32. motifs = motif.ReadJaspar(s.MatrixFile, "Weight")
  33. default:
  34. log.Fatalf("Error. Unexpected motif file format. Options are 'Frequency', 'Probability', and 'Weight'.")
  35. }
  36. if s.PropMatch < 0 || s.PropMatch > 1 {
  37. log.Fatalf("Error. PropMatch option should be a proportion, a value between 0 and 1.")
  38. }
  39. motif.RapidMatch(motifs, records, s.PropMatch, s.OutFile, s.OutputAsProportion)
  40. }
  41. func usage() {
  42. fmt.Print(
  43. "tfMatch - Genome-wide scanning of TFBS occurrences." +
  44. "Input DNA sequences must be upper case.\n" +
  45. "Usage:\n" +
  46. "tfMatch input.fa matrices.pfm output.bed\n" +
  47. "options:\n")
  48. flag.PrintDefaults()
  49. }
  50. func main() {
  51. var expectedNumArgs int = 3
  52. var propMatch *float64 = flag.Float64("propMatch", 0.8, "Specifies the minimum motif score (as a proportion of the consensus sequence score) required for a match to be retained in the output.")
  53. var matrixFileType *string = flag.String("matrixFileType", "Frequency", "Specify the type of position matrix file. Can be 'Frequency', 'Probability', or 'Weight'.")
  54. var pfmPseudocounts *float64 = flag.Float64("pfmPseudocounts", 0.1, "If a Position Frequency Matrix is provided, this pseudocount value will be applied when converting to a PWM.")
  55. var outputAsProportion *bool = flag.Bool("outputAsProportion", false, "Display the output motif scores as proportions of the consensus score. Motif difference score will thus be a change in consensus proportion.")
  56. var gcContent *float64 = flag.Float64("gcContent", 0.5, "Set the expected GC content of the target sequence.")
  57. flag.Usage = usage
  58. log.SetFlags(log.Ldate | log.Ltime | log.Lshortfile)
  59. flag.Parse()
  60. if len(flag.Args()) != expectedNumArgs {
  61. flag.Usage()
  62. log.Fatalf("Error: expecting %d arguments, but got %d\n", expectedNumArgs, len(flag.Args()))
  63. }
  64. inFile := flag.Arg(0)
  65. matrixFile := flag.Arg(1)
  66. outFile := flag.Arg(2)
  67. s := Settings{
  68. InFile: inFile,
  69. MatrixFile: matrixFile,
  70. OutFile: outFile,
  71. MatrixFileType: *matrixFileType,
  72. PropMatch: *propMatch,
  73. Pseudocounts: *pfmPseudocounts,
  74. OutputAsProportion: *outputAsProportion,
  75. GcContent: *gcContent,
  76. }
  77. tfMatch(s)
  78. }

tfMatch.go at commit bd66b49, under BSD-3-Clause · at the source

Overview

Authors: Seth Weaver1,2,3, Craig B Lowe1,2,3
  1. Department of Molecular Genetics and Microbiology, Duke University, Durham, NC 27710, USA
  2. Department of Cell Biology, Duke University, Durham, NC 27710, USA
  3. University Program in Genetics and Genomics, Duke University, Durham, NC 27710, USA
Institutions: Duke University (United States)
Journal: Molecular biology and evolution, volume 43, issue 7, article msag140
Dates: received 24 November 2025; accepted 18 May 2026; published online 6 July 2026; in print July 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1093/molbev/msag140 · PMID 42402843 · PMCID PMC13333887 · OpenAlex W4417117238
Open access: gold, a free copy (OpenAlex)
Status: code verified
Categories: human (organism), cellular / molecular (subfield)
Methods: Statistics, Connectivity, Preprocessing, Evoked potentials
Keywords: segmental duplication, gene regulation, human evolution, CRISPRi
MeSH: Regulatory Sequences, Nucleic Acid*, Segmental Duplications, Genomic*, Chromatin, Embryonic Stem Cells, Evolution, Molecular, Gene Duplication, Gene Expression Regulation, Gene Regulatory Networks, Genome, Human, Humans, Telomere (* major topic)
Topic: Chromosomal and Genetic Variations (Plant Science, Agricultural and Biological Sciences), according to OpenAlex
Funding: National Human Genome Research Institute (R35HG011332); NHGRI NIH HHS (R35HG011332); Duke Whitehead Scholarship
Citations: cited by 1 paper (Europe PMC); 141 references in the paper
Research resources: a gift from Charles Gersbach RRID:Addgene_71236, RRID:Addgene_99296

Abstract

Gene regulatory innovation underlies many phenotypic transitions. Transposable elements are an established mechanism for creating families of cis-acting elements with shared sequence features and the potential to establish co-regulatory networks. To understand additional mechanisms by which co-regulatory networks form, we define families of noncoding elements based on sequence similarity and cell type-specific activity. We apply this analysis framework to the human telomere-to-telomere genome assembly and embryonic stem cell chromatin accessibility data. We identify segmental duplications as the major mechanism establishing these families, creating over one thousand networks of elements with open chromatin in embryonic stem cells. We functionally validate a subset of these networks as families of regulatory elements with STARR-seq and identify their target genes with CRISPRi in embryonic stem cells. Following segmental duplication, we find that regulatory elements at times maintain their relationship to target genes, and at times rewire to form novel connections. During this rewiring, we observe proximal-acting elements gaining the ability to regulate distally-located genes and observe transcriptional enhancers rewiring to regulate genes present at the locus outside the segmental duplication. Many of these rewiring events are human specific. Finally, we find that segmental duplications have made outsized contributions to expanding regulatory element families functioning in immune cell types and specific brain regions, including the posterior cingulate gyrus. We speculate that placing regulatory elements in new genomic contexts primes regulatory elements for neofunctionalization, and that regulatory rewiring after segmental duplication was a common mechanism underlying gene regulatory change during human evolution.

Reproduced under the paper's license (CC BY), from the paper cited above.

Repositories

Its files are read in the Code ↔ Paper reader above, with 5 matches between paragraphs and lines of code.

ncbi/sra-tools

License: other
State: the link answers, verified on 27 September 2026
Evidence: files inventoried
Commit: 434ae787c86e32e7faa5e80417a342c365fa03b0, 25 March 2026
Languages: C/C++ (605), C (422), C++ (287), Shell (189), Java (74), Python (69), Perl (40)
Size: 3,759 files, 1,686 scripts
Software Heritage: archived
Found in: the text, “Identifying putative regulatory elements”
Holds: README, license file, environment (build/docker/Dockerfile, build/docker/Dockerfile.build-alpine, build/docker/Dockerfile.build-alpine-debug, build/docker/Dockerfile.build-amazonlinux, build/docker/Dockerfile.build-ubuntu, build/docker/Dockerfile.build_with_loaders-alpine, build/docker/Dockerfile.delite, ngs/ngs-python/setup.py), tests
Not found: CITATION.cff, continuous integration, documentation
Tools: h5py (1 file)
Availability: 1 check, the latest on 27 September 2026: the link answers
  • 27 September 2026: the link answers
1,652 files

vertgenlab/gonomics

License: BSD-3-Clause
State: the link answers, verified on 27 September 2026
Evidence: files inventoried
Commit: bd66b49bc26a9b22d46c1ea5c62b42269620dec7, 17 August 2026
Languages: Go (791), NEURON (7)
Size: 2,168 files, 798 scripts
Software Heritage: archived
Found in: “Data availability”
Holds: README, license file, environment (Dockerfile), tests, continuous integration
Not found: CITATION.cff, documentation
Availability: 1 check, the latest on 27 September 2026: the link answers
  • 27 September 2026: the link answers
800 files

The paper's code and data availability statement is in the Data section.

Tracing map

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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;
  • 2,448 scripts, each with its path and the digest of its content;
  • 5 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

Software written for this manuscript were implemented as a part of Gonomics, an ongoing effort to develop an open-source genomics platform in the Go programming language (golang). Gonomics can be accessed at https://github.com/vertgenlab/gonomics.

Additional software, as well as raw and analyzed datasets, including browser tracks, sequencing files, alignments, and figure generation pipelines are available on our lab website at https://www.vertgenlab.org and in GEO under bioproject PRJNA1367149.

Reproduced under the paper's license (CC BY), from the paper cited above.

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, 2 authors, 4 keywords, 11 MeSH terms, 3 funders, 138 references, 2 RRIDs.

Cite

This paper

Weaver, S., & Lowe, C. B. (2026). Segmentally Duplicated Regulatory Elements Undergo Human-Specific Rewiring. Molecular biology and evolution, 43(7), msag140. https://doi.org/10.1093/molbev/msag140

BibTeX

@article{weaver2026segmentally,
author = {Weaver, Seth and Lowe, Craig B},
title = {{Segmentally Duplicated Regulatory Elements Undergo Human-Specific Rewiring}},
journal = {Molecular biology and evolution},
year = {2026},
month = jul,
volume = {43},
number = {7},
pages = {msag140},
publisher = {Oxford University Press},
issn = {0737-4038},
doi = {10.1093/molbev/msag140},
url = {https://doi.org/10.1093/molbev/msag140},
pmid = {42402843},
pmcid = {PMC13333887}
}

RIS

TY - JOUR
AU - Weaver, Seth
AU - Lowe, Craig B
TI - Segmentally Duplicated Regulatory Elements Undergo Human-Specific Rewiring
T2 - Molecular biology and evolution
J2 - Mol Biol Evol
PY - 2026
DA - 2026/07/01
VL - 43
IS - 7
SP - msag140
SN - 0737-4038
PB - Oxford University Press
DO - 10.1093/molbev/msag140
UR - https://doi.org/10.1093/molbev/msag140
LA - en
ER -

CSL-JSON

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"id": "10.1093/molbev/msag140",
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"container-title": "Molecular biology and evolution",
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"family": "Weaver",
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"given": "Craig B"
}
],
"container-title-short": "Mol Biol Evol",
"volume": "43",
"issue": "7",
"page": "msag140",
"DOI": "10.1093/molbev/msag140",
"PMID": "42402843",
"PMCID": "PMC13333887",
"ISSN": "0737-4038",
"publisher": "Oxford University Press",
"URL": "https://doi.org/10.1093/molbev/msag140",
"language": "en",
"issued": {
"date-parts": [
[
2026,
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1
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}
}

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