Fig. 1: Flow chart of DNA breakpoint assay (DBA) from sample entry to variant classification. | Genetics in Medicine

Fig. 1: Flow chart of DNA breakpoint assay (DBA) from sample entry to variant classification.

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

Fig. 1

The number of samples, families, and unique alterations entering the DBA (level 1) filtered by successful DBA and tandem finding (level 2); multiple, unrelated carriers versus a single carrier (level 3); breakpoint clustering versus disparate breakpoints (level 4); variants eligible for reclassification (level 5); and finally, variants that were assigned a pathogenic classification with number of individuals receiving a positive test result represented in parentheses (level 6). UTR untranslated region

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