Repeat expansions underlie over fifty monogenic disorders but are often missed by short-read sequencing due to PCR and probe limitations. We developed a fully PCR-free hybrid capture workflow that avoids amplification-related dropout and retains representation of repetitive loci. See how we used it to:
- Eliminate PCR-related dropout of long, GC-rich repeats
- Expands detection to loci such as C9orf72, DMPK, FXN, FMR1, and ATXN genes
- Enables accurate repeat expansion genotyping with short-read sequencing platforms