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. 2019 Dec 16;116(52):26798–26807. doi: 10.1073/pnas.1915608116

Fig. 1.

Fig. 1.

An example of analysis of BRCA1 by cBROCA. At BRCA1 exons 14 to 16, BRCA1 c.4485-1G>A (black arrow) of patient CF4665.01 produces 2 mutant transcripts (V1 and V2) and normal transcript (N) (red graph). Wild-type BRCA1 of controls produces only the normal transcript (blue graph). Mutant transcript V1 introduces a frameshift by splicing from c.4484 of exon 14 to a cryptic acceptor at c.4513 of exon 15, yielding a premature stop at codon 1496. This transcript is supported by 26% of reads (517/1,977). Mutant transcript V2 skips BRCA1 exon 15 by splicing from c.4484 to c.4676 of exon 16, yielding a premature stop of codon 1509. This transcript is supported by 14% of reads (283/1,977). Sanger sequencing validated these splice effects. Estimates of proportions of transcripts from the mutant allele (PM) are therefore 52% V1, 28% V2, and 20% wild-type.