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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...
Autores principales: | Aguirre, Josu, Padilla, Natàlia, Özkan, Selen, Riera, Casandra, Feliubadaló, Lídia, de la Cruz, Xavier |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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