Fig. 3: Classification rates for gross duplications before and after DNA breakpoint assay (DBA). | Genetics in Medicine

Fig. 3: Classification rates for gross duplications before and after DNA breakpoint assay (DBA).

From: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

Fig. 3

a Percent classification ascribed to each tandem gross duplication before and after DBA tandem finding. b Percent classification ascribed to each reclassification-eligible gross duplication before and after DBA tandem finding. Eligible gross duplications must have been identified in tandem, must not have involved a 5′ or 3′ UTR/up- or downstream region, and must have not been contained within a single intron. This does not include PALB2 Ex13_3′UTRdup, which was reclassified as pathogenic in light of 3′-UTR involvement (see text). VUS variant of uncertain significance; VLP very likely pathogenic

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