Multi-objective prioritization of genes for high-throughput functional assays towards improved clinical variant classification

The accurate interpretation of genetic variants is essential for clinical actionability. However, a majority of variants remain of uncertain significance. Multiplexed assays of variant effects (MAVEs), can help provide functional evidence for variants of uncertain significance (VUS) at the scale of...

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Detalles Bibliográficos
Autores principales: Chen, Yile, Jain, Shantanu, Zeiberg, Daniel, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag, Pejaver, Vikas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042589/
https://www.ncbi.nlm.nih.gov/pubmed/36540988

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042589/
https://www.ncbi.nlm.nih.gov/pubmed/36540988

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