Cargando…
Classifying Variants of Undetermined Significance in BRCA2 with Protein Likelihood Ratios
BACKGROUND: Missense (aminoacid changing) variants found in cancer predisposition genes often create difficulties when clinically interpreting genetic testing results. Although bioinformatics has developed approaches to predicting the impact of these variants, many of these approaches have not been...
Autores principales: | Karchin, Rachel, Agarwal, Mukesh, Sali, Andrej, Couch, Fergus, Beattie, Mary S. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Libertas Academica
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587343/ https://www.ncbi.nlm.nih.gov/pubmed/19043619 |
Ejemplares similares
-
Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning
por: Karchin, Rachel, et al.
Publicado: (2007) -
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance
por: Richardson, Marcy E., et al.
Publicado: (2021) -
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML
por: Hart, Steven N., et al.
Publicado: (2020) -
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance
por: Iversen, Edwin S., et al.
Publicado: (2022) -
The Correlation of Age with Prognosis of Atypia of Undetermined Significance and Follicular Lesion of Undetermined Significance in Thyroid Nodules
por: Kaliszewski, Krzysztof, et al.
Publicado: (2021)