Abstract
Accurate detection of Copy Number Variants (CNV) in homologous recombination repair (HRR) related genes is essential for HRR deficiency diagnostics and treatment administration such as PARP inhibitors. CNV detection from high-throughput sequencing (HTS) is expected to complete simultaneous comprehensive genetic markers evaluation, reduce cost and turnaround time and to increase sensitivity. It is still challenging to detect somatic CNV from small targeted panels that are widespread in clinical settings.
Full Text
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call