Fig. 2

Genotyping of cancer patients using gBART-Seq. a Schematic representation of the application of BART-Seq for genotyping cancer patients to replace mutation-specific assays. b A heatmap showing the BART-Seq reads assigned to Amp4 (wild-type and mutated alleles) using gDNA of varying concentrations from 96 patients, each represented by a unique barcode combination (L01-L08 × R01-R12). L09-L19 and R13-R19 are dummy barcodes that were not used in the primer-barcode assembly. Additional amplicons are shown in Additional file 7: Figure S1c and the complete count matrices in Additional file 3: Table S3a. c, d Genotypes of 96 breast cancer patients corresponding to 10 BRCA1 and BRCA2 mutations. Correspondence of BART-Seq results produced using 8-mer barcodes (c) and barcodes with the addition of 5′CCA trinucleotide as protection group (d), to the known genotypes is marked by green sectors (true positives). Further details about the protection group 5′CCA is given in Additional file 7: Figure S1. A summary of patient genotyping rates for c and d is shown at the bottom