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Bioinformatics
Article . 2014 . Peer-reviewed
Data sources: Crossref
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Bioinformatics
Article
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Bioinformatics
Article . 2014
DBLP
Article . 2022
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MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

Authors: Evan A. Boyle; Brian J. O'Roak; Beth K. Martin; Akash Kumar 0013; Jay Shendure;

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

Abstract

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.

Related Organizations
Keywords

Models, Statistical, Computational Biology, Humans, Computer Simulation, DNA Probes, Sequence Analysis, Algorithms

  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    145
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 1%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 1%
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
145
Top 1%
Top 10%
Top 1%
gold