Extended Data Fig. 8: ESC-based BRCA2 SGE-based classification show concordance with orthogonal functional assay.
From: Saturation genome editing-based clinical classification of BRCA2 variants
a, Concordance between HDR score and SGE-based classification for OB2 and OB3 domain SNVs. Notably, SNVs in the Tower domain exhibit a high HDR score, consistent with the functional nature of our SGE-based classification. b, Sankey plot representing the overall distribution of HDR-normal and abnormal SNVS and their concordance with different tiers of pathogenicity and benignity in the functional assay. c, Comparison of SGE-based classification with CRISPR-independent, BAC recombineering-based method. d, Strong concordance of SGE-based classification with CRISPR-based prime editing.
