Evidence map›Paper›PMID 24867941›Full record

ArticleBioinformatics (Oxford, England)2014

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

Evan A Boyle, Brian J O'Roak, Beth K Martin, Akash Kumar, Jay Shendure

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers.

0numbers the graph read from it
0cells of the map it votes in
100citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

100 citing papers in PubMed.

  1. Trial
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  7. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.Proceedings of the National Academy of Sciences of the United States of America · 2025
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  14. A Case-Control Study Supports Genetic Contribution of theAntioxidants (Basel, Switzerland) · 2024
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  17. HeterozygousJournal of medical genetics · 2024
    Article
  18. Article
  19. Article
  20. Article

40 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Evan A BoyleDepartment of Genome Sciences, University of Washington, Seattle, WA 98105 and Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Brian J O'RoakDepartment of Genome Sciences, University of Washington, Seattle, WA 98105 and Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Beth K MartinDepartment of Genome Sciences, University of Washington, Seattle, WA 98105 and Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Akash KumarDepartment of Genome Sciences, University of Washington, Seattle, WA 98105 and Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, WA 98105 and Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.

Funding

University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
Ultrasensitive identification and precise quantitation of low frequency somatic mR21CA160080 · NCI · UNIVERSITY OF WASHINGTON · PI SHENDURE, JAY ASHOK · 2011 to 2013
$588k
NCI NIH HHS CA160080NCI NIH HHS R21 CA160080NIGMS NIH HHS T32 GM007266
6 · The paper itself

Abstract

unlabelledMolecular 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/.

Indexed as

AlgorithmsModels, StatisticalComputational BiologyComputer SimulationDNA ProbesHumansSequence AnalysisDNA Probes

Identifiers

PMID24867941
PMCPMC4155255

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.