Cargando…
Exploring the importance of case-level clinical information for variant interpretation
Autor principal: | Berg, Jonathan S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225022/ https://www.ncbi.nlm.nih.gov/pubmed/27561084 http://dx.doi.org/10.1038/gim.2016.106 |
Ejemplares similares
-
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
por: Nix, Paola, et al.
Publicado: (2021) -
On the importance of interpretable machine learning predictions to inform clinical decision making in oncology
por: Lu, Sheng-Chieh, et al.
Publicado: (2023) -
Exploration of Tools for the Interpretation of Human Non-Coding Variants
por: Tabarini, Nicole, et al.
Publicado: (2022) -
The Importance of Ordinal Information in Interpreting Number/Letter Line Data
por: Podwysocki, Christine, et al.
Publicado: (2019) -
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation
por: Gelman, Hannah, et al.
Publicado: (2019)