Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.
- DOI
- 10.3390/cimb48070706
- Published
- 2026 Jul 11
- Container
- Current issues in molecular biology
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.3390/cimb48070706,
title = {Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.},
author = {Ruzicka J and Ravel JM and Audoux J and Boulat A and Thévenon J and Yauy K and Dancer M and Raymond L and Lombardi Y and Philippe N and Blum MG and Duforet-Frebourg N and Mesnard L},
year = {2026},
journal = {Current issues in molecular biology},
doi = {10.3390/cimb48070706},
url = {https://doi.org/10.3390/cimb48070706}
}RIS
TY - JOUR TI - Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing. AU - Ruzicka J AU - Ravel JM AU - Audoux J AU - Boulat A AU - Thévenon J AU - Yauy K AU - Dancer M AU - Raymond L AU - Lombardi Y AU - Philippe N AU - Blum MG AU - Duforet-Frebourg N AU - Mesnard L PY - 2026 JO - Current issues in molecular biology DO - 10.3390/cimb48070706 UR - https://doi.org/10.3390/cimb48070706 ER -
APA
J, R., JM, R., J, A., A, B., J, T., K, Y., M, D., L, R., Y, L., N, P., MG, B., N, D., & L, M. (2026). Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.. Current issues in molecular biology. https://doi.org/10.3390/cimb48070706
Source records
- pubmed · retrieved 2026-09-26T19:34:36.095Z