Cargando…
AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms
Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the clinically significant ones remains difficult, such t...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634779/ https://www.ncbi.nlm.nih.gov/pubmed/37961354 http://dx.doi.org/10.1101/2023.10.24.562294 |