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Actionability classification of variants of unknown significance correlates with functional effect

Genomically-informed therapy requires consideration of the functional impact of genomic alterations on protein expression and/or function. However, a substantial number of variants are of unknown significance (VUS). The MD Anderson Precision Oncology Decision Support (PODS) team developed an actiona...

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Detalles Bibliográficos
Autores principales: Johnson, Amber, Ng, Patrick Kwok-Shing, Kahle, Michael, Castillo, Julia, Amador, Bianca, Wang, Yujia, Zeng, Jia, Holla, Vijaykumar, Vu, Thuy, Su, Fei, Kim, Sun-Hee, Conway, Tara, Jiang, Xianli, Chen, Ken, Shaw, Kenna R. Mills, Yap, Timothy A., Rodon, Jordi, Mills, Gordon B., Meric-Bernstam, Funda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349825/
https://www.ncbi.nlm.nih.gov/pubmed/37454202
http://dx.doi.org/10.1038/s41698-023-00420-w