The Oncomine BRCA Research Assay was evaluated by 22 laboratories during an early-access program.
The Oncomine BRCA Research Assay enables robust performance and reliable, rapid and consistent high-quality results from every sample.
Sequencing data are analyzed using Ion Reporter™ Software, a tailored bioinformatics solution that enables easy implementation and use in every laboratory.
Figure 1. Oncomine BRCA Research Assay workflow.
The associated figures demonstrate the superior performance of the Oncomine BRCA Research Assay. All exons are 100% covered, with an average of 64 bases of flanking sequence into the introns upstream and downstream of each exon, allowing for over 99% confidence of detecting 5% somatic variants. The uniformity and high read counts ensure high sensitivity and accuracy of both somatic and germline mutation detection, demonstrated with different workflows (templating and sequencers). The performance has been verified for use on the Ion 318 and Ion 530 chips.
Figure 2. 100% exon coverage across both BRCA 1 and BRCA 2 genes, with high uniformity and read counts across all exons, allowing for over 99% confidence of detecting 5% somatic variant.
|gDNA variants||Platform||Library & templating||SNV||Indel|
|5% allele frequency||Ion PGM™ System/|
Ion 318™ Chip
|Ion S5™ System/|
Ion 530™ Chip
|50% and 100% allele frequency||Ion PGM System/|
Ion 318 Chip
|Ion S5 System/|
Ion 530 Chip
Figure 3. Superior accuracy in detecting somatic and germline variants that is highly consistent and independent of workflow. At 5% allele frequency, >1,000 SNV and >600 indel variants measured. At 50%, 100% allele frequency, >4,000 SNV and >200 indel variants measured. Positive predictive value (PPV) = true positives/total number of positives. Sensitivity = true positive/(true positives + false positives).
Figure 4. Relative abundance of BRCA exons are plotted. The sample has a deletion in BRCA1 (red) of exons 4–9 (green circle). BRCA2 (blue) has no CNV. The green plot indicates the sample ID amplicons used for normalization.
For Research Use Only. Not for use in diagnostic procedures.