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Tandem repeats in human brain evolution and disease susceptibility.

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Paper

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

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The authors' code

Shell · 1 line · 158 B · no license

  1. EnsembleTR --vcfs eh_example_smaller.vcf.gz,hipstr_example_smaller.vcf.gz,gangstr_example_smaller.vcf.gz --out ensemble_example.vcf --ref hg38.analysisSet.fa

command.sh at commit dbda15b, no license · at the source

Overview

Authors: Hyeji Lee1,2,3,4, Joon-Yong An1,2,3,5
ORCID iDs: Hyeji Lee, Joon-Yong An
  1. Department of Integrated Biomedical and Life Sciences, Korea University, Seoul 02841, Republic of Korea
  2. L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul 02841, Republic of Korea
  3. National Research Laboratory for Convergence Degradation Biology, Korea University, Seoul 02841, Republic of Korea
  4. Program in Molecular Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada
  5. School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul 02841, Republic of Korea
Institutions: Korea University (South Korea); Hospital for Sick Children (Canada)
Journal: Molecules and cells, volume 49, issue 6, article 100363
Dates: received 27 January 2026; accepted 19 April 2026; published online 27 April 2026; in print June 2026
Type: Review · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1016/j.mocell.2026.100363 · PMID 42055287 · PMCID PMC13196383 · OpenAlex W7155970042
Open access: gold, a free copy (OpenAlex)
Status: code verified
Categories: human (organism), cellular / molecular (subfield)
Methods: Preprocessing, Spectral & time-frequency, Statistics, Connectivity, Complexity
Keywords: Gene regulation, Genetic instability, Human brain evolution, Neurological disorders, Repeat expansion
MeSH: Brain*, Genetic Predisposition to Disease*, Animals, Biological Evolution, Evolution, Molecular, Humans (* major topic)
Topic: Genetic Neurodegenerative Diseases (Cellular and Molecular Neuroscience, Neuroscience), according to OpenAlex
Funding: National Research Foundation of Korea (RS-2024\u201300411597, RS-2025\u201316652968, RS-2024\u201300439474, RS-2025\u201300553304); Ministry of Education, Ethiopia; Korea University; Ministry of Science and ICT, South Korea
Citations: cited by 1 paper (Europe PMC); 277 references in the paper

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.

Repository

Its files are read in the Code ↔ Paper reader above.

gymrek-lab/EnsembleTR

License: none: the authors keep all their rights
State: the link answers, verified on 27 September 2026
Evidence: files inventoried
Commit: dbda15bcf92c2416fb011d1337ddfead1b4d77b6, 30 April 2025
Languages: Python (10), Shell (3)
Size: 24 files, 13 scripts
Software Heritage: not archived
Found in: the resources table
Holds: README, environment (poetry.lock, pyproject.toml), tests
Not found: license file, CITATION.cff, continuous integration, documentation
Tools: NumPy (3 files), NetworkX (2 files), SAMtools (1 file)
Availability: 1 check, the latest on 27 September 2026: the link answers
  • 27 September 2026: the link answers
14 files
At the source: github.com/gymrek-lab/EnsembleTR

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:

  • 1 repository of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
  • 13 scripts, each with its path and the digest of its content;
  • no match between paragraphs and code yet;
  • 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.

Versions

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Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 2 authors, 5 keywords, 6 MeSH terms, 4 funders, 271 references.

Cite

This paper

Lee, H., & An, J.-Y. (2026). Tandem repeats in human brain evolution and disease susceptibility. Molecules and cells, 49(6), 100363. https://doi.org/10.1016/j.mocell.2026.100363

BibTeX

@article{lee2026tandem,
author = {Lee, Hyeji and An, Joon-Yong},
title = {{Tandem repeats in human brain evolution and disease susceptibility}},
journal = {Molecules and cells},
year = {2026},
month = apr,
volume = {49},
number = {6},
pages = {100363},
publisher = {Korean Society for Molecular and Cellular Biology},
issn = {1016-8478},
doi = {10.1016/j.mocell.2026.100363},
url = {https://doi.org/10.1016/j.mocell.2026.100363},
pmid = {42055287},
pmcid = {PMC13196383}
}

RIS

TY - JOUR
AU - Lee, Hyeji
AU - An, Joon-Yong
TI - Tandem repeats in human brain evolution and disease susceptibility
T2 - Molecules and cells
J2 - Mol Cells
PY - 2026
DA - 2026/04/27
VL - 49
IS - 6
SP - 100363
SN - 1016-8478
PB - Korean Society for Molecular and Cellular Biology
DO - 10.1016/j.mocell.2026.100363
UR - https://doi.org/10.1016/j.mocell.2026.100363
LA - en
ER -

CSL-JSON

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"page": "100363",
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The tracing map gets a citation of its own once an author has validated it and it has a DOI.

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