Choosing Variant Interpretation Tools for Clinical Applications: Context Matters

Pathogenicity predictors are computational tools that classify genetic variants as benign or pathogenic; this is currently a major challenge in genomic medicine. With more than fifty such predictors available, selecting the most suitable tool for clinical applications like genetic screening, molecul...

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Detalles Bibliográficos
Autores principales: Aguirre, Josu, Padilla, Natàlia, Özkan, Selen, Riera, Casandra, Feliubadaló, Lídia, de la Cruz, Xavier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10380979/
https://www.ncbi.nlm.nih.gov/pubmed/37511631
http://dx.doi.org/10.3390/ijms241411872

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10380979/
https://www.ncbi.nlm.nih.gov/pubmed/37511631
http://dx.doi.org/10.3390/ijms241411872

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