Extended Data Fig. 7: Correlation of SNV classification by ESC-based BRCA2 SGE and homology directed repair (HDR) assay.
From: Saturation genome editing-based clinical classification of BRCA2 variants
Robust alignment between our ESC-based BRCA2 SGE-based classification and HDR score, particularly for 440 germline BRCA2 missense variants distributed across crucial functional regions (Helical domain and OB1) within the BRCA2 C-terminal DNA binding domain. The box colour represents light blue as benign, red as pathogenic, pooled from strong, moderate and supporting categories. The light red denotes the uncertain class of SNVs. The HR score for individual SNVs were available from Hu et al.49.
