Extended Data Fig. 9: Categorizing 149 uncertain SNVs as potential hypomorphic variants.
From: Saturation genome editing-based clinical classification of BRCA2 variants
a, Comparison of ESC-based BRCA2 SGE-based classification of SNVs previously classified using the MANO-B assay based on their responses to various PARP inhibitors (olaparib, rucaparib, niraparib) and carboplatin. b, Experimental strategy demonstrating the filtering of “uncertain” class SNVs with conflicting classifications between cell fitness and drug response data to identify potential hypomorphs (n = 302 SNVs). The uncertain variants were filtered to identify SNVs that fall in the uncertain and pathogenic categories and further identified if they represent pathogenic class in both cisplatin and olaparib dataset. c, Heatmap showing potential hypomorphic variants that survive in the DMSO pool but are sensitive to DNA damaging agents (n = 158 SNVs).
