Toward the clinical application of long-read sequencing in repeat-expansion disorders.

Benarroch L, Pešović J, Rossato M, Chen Z, Lucas MC, Cogan G, Rajan-Babu IS, Prokosch V, Zarouchlioti C, Carlomagno M, Höijer I, Sauer M, Jamail I, Shibata S, Sequiera GL, Kleinstiver BP, Lameiras S, Mouro Pinto R, Novelli G, Hensman Moss D, Dominik N, Barbier M, Le Ber I, Bassez G, Furling D, Delledonne M, Usdin K, Baulande S, Gourdon G, Schüle B, Savić-Pavićević D, Botta A, Davidson AE, Ameur A, Dion V, Tomé S, LRS-RED Consortium

Open source

DOI: 10.1038/s41588-026-02694-9
Published: 2026 Sep
Container: Nature genetics
Publisher: Not recorded
Open access: unknown

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1038/s41588-026-02694-9,
  title = {Toward the clinical application of long-read sequencing in repeat-expansion disorders.},
  author = {Benarroch L and Pešović J and Rossato M and Chen Z and Lucas MC and Cogan G and Rajan-Babu IS and Prokosch V and Zarouchlioti C and Carlomagno M and Höijer I and Sauer M and Jamail I and Shibata S and Sequiera GL and Kleinstiver BP and Lameiras S and Mouro Pinto R and Novelli G and Hensman Moss D and Dominik N and Barbier M and Le Ber I and Bassez G and Furling D and Delledonne M and Usdin K and Baulande S and Gourdon G and Schüle B and Savić-Pavićević D and Botta A and Davidson AE and Ameur A and Dion V and Tomé S and LRS-RED Consortium},
  year = {2026},
  journal = {Nature genetics},
  doi = {10.1038/s41588-026-02694-9},
  url = {https://doi.org/10.1038/s41588-026-02694-9}
}

RIS

TY  - JOUR
TI  - Toward the clinical application of long-read sequencing in repeat-expansion disorders.
AU  - Benarroch L
AU  - Pešović J
AU  - Rossato M
AU  - Chen Z
AU  - Lucas MC
AU  - Cogan G
AU  - Rajan-Babu IS
AU  - Prokosch V
AU  - Zarouchlioti C
AU  - Carlomagno M
AU  - Höijer I
AU  - Sauer M
AU  - Jamail I
AU  - Shibata S
AU  - Sequiera GL
AU  - Kleinstiver BP
AU  - Lameiras S
AU  - Mouro Pinto R
AU  - Novelli G
AU  - Hensman Moss D
AU  - Dominik N
AU  - Barbier M
AU  - Le Ber I
AU  - Bassez G
AU  - Furling D
AU  - Delledonne M
AU  - Usdin K
AU  - Baulande S
AU  - Gourdon G
AU  - Schüle B
AU  - Savić-Pavićević D
AU  - Botta A
AU  - Davidson AE
AU  - Ameur A
AU  - Dion V
AU  - Tomé S
AU  - LRS-RED Consortium
PY  - 2026
JO  - Nature genetics
DO  - 10.1038/s41588-026-02694-9
UR  - https://doi.org/10.1038/s41588-026-02694-9
ER  -

APA

L, B., J, P., M, R., Z, C., MC, L., G, C., IS, R., V, P., C, Z., M, C., I, H., M, S., I, J., S, S., GL, S., BP, K., S, L., R, M. P., G, N., D, H. M., N, D., M, B., I, L. B., G, B., D, F., M, D., K, U., S, B., G, G., B, S., D, S., A, B., AE, D., A, A., V, D., S, T., & Consortium, L. (2026). Toward the clinical application of long-read sequencing in repeat-expansion disorders.. Nature genetics. https://doi.org/10.1038/s41588-026-02694-9

Source records

pubmed · retrieved 2026-09-26T07:54:41.799Z