Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
<i>BayesQuantify</i> is a user-friendly tool that enhances the flexibility and reproducibility of ACMG/AMP criteria refinement, thus improving the accuracy and consistency of variant classification. The package is freely available at https://github.com/liusihan/BayesQuantify.
Authors
- Fengxiao Bu (ORCID: https://orcid.org/0000-0002-4882-4856)
- Xiaoshu Feng
- Yang Wu (ORCID: https://orcid.org/0000-0002-0128-7280)
- Sihan Liu
Institutions
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-09-19
- DOI
- https://doi.org/10.1136/jmg-2025-110863
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45