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Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures

With the surge of the high-throughput sequencing technologies, many genetic variants have been identified in the past decade. The vast majority of these variants are defined as variants of uncertain significance (VUS), as their significance to the function or health of an organism is not known. It i...

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Detalles Bibliográficos
Autores principales: Li, Chang, Zhang, Lili, Zhuo, Zhongling, Su, Fei, Li, Hexin, Xu, Siyuan, Liu, Ye, Zhang, Zaifeng, Xie, Yibo, Yu, Xue, Bian, Liheng, Xiao, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9800725/
https://www.ncbi.nlm.nih.gov/pubmed/36593954
http://dx.doi.org/10.7150/thno.79362

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