Cite PedigreeTool

To ensure research reproducibility and maintain clinical accuracy, formal attribution is required for any diagrams generated using PedigreeTool that appear in publications, posters, presentations, or reports.

Software Citation

APA

Yavuz, E. & Schuele, B. (2026). PedigreeTool: A Web-Based Interface for Standardized and Gender-Inclusive Clinical Pedigree Drawing (Version 0.5.1 Beta) [Computer software]. https://pedigreetool.com

MLA

Yavuz, Ezgi, and Schuele, Bastian. PedigreeTool: A Web-Based Interface for Standardized and Gender-Inclusive Clinical Pedigree Drawing. Version 0.5.1 Beta, 2026, https://pedigreetool.com.

BibTeX

@software{PedigreeTool2026,
author = {Surname, Name and Surname2, Name2},
title = {PedigreeTool: A Web-Based Interface for Standardized and Gender-Inclusive Clinical Pedigree Drawing},
year = {2026},
url = {https://pedigreetool.com},
version = {v0.5.1 Beta},
note = {Developed in accordance with the Bennett et al. (2022) nomenclature standards and French et al. (2025) corrections.}
}

Methods Section Reference

You may adapt the following text to describe the use of PedigreeTool in your research paper’s Methods section.

“The pedigree charts in this study were generated using PedigreeTool (v0.5.1 Beta, available at https://pedigreetool.com). The diagrams follow the standardized human pedigree nomenclature centered on sex and gender inclusivity as established by Bennett et al. (2022) and incorporate the latest clinical refinements and corrections provided by French et al. (2025).”

Scientific Standards and Nomenclature

PedigreeTool is developed specifically to implement the updated human pedigree standards. We recommend citing both the primary practice resource and the recent correction to validate the scientific methodology of your diagrams.

The Primary Standard

Bennett, R. L., French, K. S., Resta, R. G., & Austin, J. (2022). Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling, 31(6), 1238–1248. https://doi.org/10.1002/jgc4.1621

The 2025 Correction

French, K. S., Bennett, R., & Resta, R. (2025). Correction to: Practice resource‐focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling, 34(2), e2020. https://doi.org/10.1002/jgc4.2020

Ontology Standards

To ensure data interoperability and the use of standardized clinical terminology, PedigreeTool utilizes the EMBL-EBI Ontology Lookup Service (OLS4). This integration allows for precise phenotypic tagging using the Human Phenotype Ontology (HPO) and MONDO Disease Ontology.

McLaughlin, J., Lagrimas, J., Iqbal, H., Parkinson, H., & Harmse, H. (2025). OLS4: a new Ontology Lookup Service for a growing interdisciplinary knowledge ecosystem. Bioinformatics (Oxford, England)41(5), btaf279. https://doi.org/10.1093/bioinformatics/btaf279