An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency. undefined

Deep targeted sequencing technologies are still not widely used in clinical practice due to the complexity of the methods and their cost. The Molecular Inversion Probes (MIP) technology is cost effective and scalable in the number of targets, however, suffers from low overall performance especially in GC rich regions. In order to improve the MIP performance, we sequenced a large cohort of healthy individuals (n=4417), with a panel of 616 MIPs, at high depth in duplicates.