Extended Data Fig. 4: Mixture modelling of function scores to classify BRCA2 SNVs.
From: Saturation genome editing-based clinical classification of BRCA2 variants
a, Correlation of function scores of all SNVs between individual replicates demonstrate the distribution of functional and nonfunctional thresholds. b, Correlation of function scores of all SNVs between individual replicates for individual exons. The dashed line represents the thresholds for functional and nonfunctional thresholds derived from GMM. c–e, Swarm plots demonstrating the distribution of (c) synonymous and nonsense SNVs (n = 1648), (d) ClinVar-reported SNVs (n = 783) and (e) all classified variants (n = 6198). The dashed line represents the median of the nonsense SNVs (red) and synonymous SNVs (blue).
