MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

EA Boyle, BJ O'Roak, BK Martin, A Kumar… - …, 2014 - academic.oup.com
Bioinformatics, 2014academic.oup.com
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 …
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.
Oxford University Press