Variant effect predictor correlation with functional assays is reflective of clinical classification performance
Abstract Background Understanding the relationship between protein sequence and function is crucial for accurate classification of missense variants. Variant effect predictors (VEPs) play a vital role in deciphering this complex relationship, yet evaluating their performance remains challenging for...
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| Autori principali: | , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2025-04-01
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| Serie: | Genome Biology |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s13059-025-03575-w |
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