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A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants

The rapid integration of genomic technologies in clinical diagnostics has resulted in the detection of a multitude of missense variants whose clinical significance is often unknown. As a result, a plethora of computational tools have been developed to facilitate variant interpretation. However, choo...

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Detalles Bibliográficos
Autores principales: Qorri, Erda, Takács, Bertalan, Gráf, Alexandra, Enyedi, Márton Zsolt, Pintér, Lajos, Kiss, Ernő, Haracska, Lajos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322961/
https://www.ncbi.nlm.nih.gov/pubmed/35887294
http://dx.doi.org/10.3390/ijms23147946