
Abstract Summary Molecular inversion probes (MIPs) enable cost-effective multiplex targeted gene resequencing in large cohorts. However, the design of individual MIPs is a critical parameter governing the performance of this technology with respect to capture uniformity and specificity. MIPgen is a user-friendly package that simplifies the process of designing custom MIP assays to arbitrary targets. New logistic and SVM-derived models enable in silico predictions of assay success, and assay redesign exhibits improved coverage uniformity relative to previous methods, which in turn improves the utility of MIPs for cost-effective targeted sequencing for candidate gene validation and for diagnostic sequencing in a clinical setting. Availability and implementation: MIPgen is implemented in C++. Source code and accompanying Python scripts are available at http://shendurelab.github.io/MIPGEN/ . Contact: shendure@uw.edu or boylee@uw.edu Supplementary information: Supplementary data are available at Bioinformatics online.
Models, Statistical, Computational Biology, Humans, Computer Simulation, DNA Probes, Sequence Analysis, Algorithms
Models, Statistical, Computational Biology, Humans, Computer Simulation, DNA Probes, Sequence Analysis, Algorithms
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