TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs

Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through assisted manual filtering and automated classification, based on an extensive catalogue of functional annotation suppor...

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Detalles Bibliográficos
Autores principales: Hertzberg, Jakob, Mundlos, Stefan, Vingron, Martin, Gallone, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886976/
https://www.ncbi.nlm.nih.gov/pubmed/35232478
http://dx.doi.org/10.1186/s13059-022-02631-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886976/
https://www.ncbi.nlm.nih.gov/pubmed/35232478
http://dx.doi.org/10.1186/s13059-022-02631-z

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