Robust detection of SVs and SNVs in FFPE samples
Despite developments in targeted and whole genome sequencing, the robust detection of all mutations including structural variants remains a challenge, especially in FFPE samples. In this application note, the newly developed Targeted Locus Capture protocol and its ability to detect mutations in representative clinical FFPE samples is presented.
Highlights
- TLA allows for targeted, complete sequencing of genes of interest, also in FFPE samples.
- TLA enables robust detection of both SNVs and SVs in all genes of interest.
- TLA can become part of standard targeted NGS workflows, enabling single, DNA-based diagnostic tests.
- DNA-based breakpoint sequences of SVs can serve as excellent markers for personalized ctDNA tests.