Complete and optimized coverage for all exons.
Using sequence capturing with single molecule Molecular Inversion Probes (smMIP), followed by a barcoding amplification step, the system enables sequencing of the targeted regions in a very simple, fast and robust workflow.
The kits contain all reagents for a straightforward, one-step capturing and subsequently sample tagging for NGS sequencing. The resulting libraries are compatible with Illumina sequencing platforms. Includes BRCA1, BRCA2, PALB2, CHEK2, RAD51C, RAD51D, BRIP1.
The revolutionary smMIP based enrichment method, in combination with the straightforward kit design provides a number of unique features:
Besides the probe pool for capturing the targeted hotspot regions, the assay contains additional identification smMIPs, targeting a set of high variable, genome-wide Single Nucleotide polymorphysms, for additional quality control (sample tracking), error detection (mixed DNA detection), and heritance checking.
✔ Coding regions 100% covered
✔ Intrinsic refSNPs for sample ID and quality control