Comprehensive evaluation of ACMG/AMP-based variant classification tools

Tohid Ghasemnejad, Yuheng Liang, Khadijeh Hoda Jahanian, Milad Eidi, Arash Salmaninejad, Seyedeh Sedigheh Abedini, Fabrizzio Horta, Nigel H Lovell, Thantrira Porntaveetus, Mark Grosser, Mahmoud Aarabi, Hamid Alinejad-Rokny

Open source

DOI: 10.1093/bioinformatics/btaf623
Published: 2026-02
Container: Bioinformatics
Publisher: Oxford University Press (OUP)
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. 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
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1093/bioinformatics/btaf623,
  title = {Comprehensive evaluation of ACMG/AMP-based variant classification tools},
  author = {Tohid Ghasemnejad and Yuheng Liang and Khadijeh Hoda Jahanian and Milad Eidi and Arash Salmaninejad and Seyedeh Sedigheh Abedini and Fabrizzio Horta and Nigel H Lovell and Thantrira Porntaveetus and Mark Grosser and Mahmoud Aarabi and Hamid Alinejad-Rokny},
  year = {2026},
  journal = {Bioinformatics},
  doi = {10.1093/bioinformatics/btaf623},
  url = {https://doi.org/10.1093/bioinformatics/btaf623}
}

RIS

TY  - JOUR
TI  - Comprehensive evaluation of ACMG/AMP-based variant classification tools
AU  - Tohid Ghasemnejad
AU  - Yuheng Liang
AU  - Khadijeh Hoda Jahanian
AU  - Milad Eidi
AU  - Arash Salmaninejad
AU  - Seyedeh Sedigheh Abedini
AU  - Fabrizzio Horta
AU  - Nigel H Lovell
AU  - Thantrira Porntaveetus
AU  - Mark Grosser
AU  - Mahmoud Aarabi
AU  - Hamid Alinejad-Rokny
PY  - 2026
JO  - Bioinformatics
DO  - 10.1093/bioinformatics/btaf623
UR  - https://doi.org/10.1093/bioinformatics/btaf623
ER  -

APA

Ghasemnejad, T., Liang, Y., Jahanian, K. H., Eidi, M., Salmaninejad, A., Abedini, S. S., Horta, F., Lovell, N. H., Porntaveetus, T., Grosser, M., Aarabi, M., & Alinejad-Rokny, H. (2026). Comprehensive evaluation of ACMG/AMP-based variant classification tools. Bioinformatics. https://doi.org/10.1093/bioinformatics/btaf623

Source records

crossref · retrieved 2026-11-04T22:20:53.776Z