Article
BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy.
Physiological genomics - 1 Aug 2023
Khandakji Mohannad, Habish Hind Hassan Ahmed, Abdulla Nawal Bakheet Salem, Kusasi Sitti Apsa Albani, Abdou Nema Mahmoud Ghobashy, Al-Mulla Hajer Mahmoud M A, Al Sulaiman Reem Jawad A A, Bu Jassoum Salha M, Mifsud Borbala
Abstract excerpt
Identification of novel BRCA1 variants outpaces their clinical annotation which highlights the importance of developing accurate computational methods for risk assessment. Therefore our aim was to develop a BRCA1-specific machine learning model to predict the pathogenicity of all types of BRCA1 variants and to apply this model and our previous BRCA2-specific model to assess BRCA variants of uncertain significance...
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