Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual.
- DOI
- 10.1159/000543671
- Published
- 2025
- Container
- Human heredity
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
limited evidence Score 45/100 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.
- cautionDOI resolves: No matching Crossref record was present in this response.
- 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.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- 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.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1159/000543671,
title = {Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual.},
author = {Ogloblinsky MC and Gros-La-Faige MB and Lewinsohn DP and Nguyen M and Velo-Suarez L and Herzig A and Ludwig TE and Castillo-Madeen H and Conrad DF and Génin E and Marenne G},
year = {2025},
journal = {Human heredity},
doi = {10.1159/000543671},
url = {https://doi.org/10.1159/000543671}
}RIS
TY - JOUR TI - Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual. AU - Ogloblinsky MC AU - Gros-La-Faige MB AU - Lewinsohn DP AU - Nguyen M AU - Velo-Suarez L AU - Herzig A AU - Ludwig TE AU - Castillo-Madeen H AU - Conrad DF AU - Génin E AU - Marenne G PY - 2025 JO - Human heredity DO - 10.1159/000543671 UR - https://doi.org/10.1159/000543671 ER -
APA
MC, O., MB, G., DP, L., M, N., L, V., A, H., TE, L., H, C., DF, C., E, G., & G, M. (2025). Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual.. Human heredity. https://doi.org/10.1159/000543671
Source records
- pubmed · retrieved 2026-09-25T02:50:23.578Z