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  3. Pool-seq
  4. Indel detection
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Detects and quantifies short indels and substitutions in large pools. SPLINTER allows accurate detection and quantification of short insertions, deletions, and substitutions by integrating information from the synthetic DNA library to tune SPLINTER and quantify specificity and sensitivity for every experiment in order to accurately detect and quantify indels and substitutions.

Software type:
Package
Interface:
Command line interface
Restrictions to use:
Academic users only
Input data:
Aligned file and error model
Operating system:
Unix/Linux
Programming languages:
C, C++
Computer skills:
Advanced
Stability:
Stable
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Institution(s)

Center for Genome Sciences and Systems Biology Department of Genetics Washington University in St. Louis School of Medicine, St. Louis, Missouri 63108, USA

Funding source(s)

This work was partly supported by the Children's Discovery Institute grant MC-II-2006-1, the NIH Epigenetics Roadmap grant (1R01DA025744-01 and 3R01DA025744-02S1), the Saigh Foundation, and Hope Street Kids and Alex's Lemonade Stand “A” Award support.

  • (Vallania et al., 2010) High-throughput discovery of rare insertions and deletions in large cohorts. Genome research.
    PMID: 21041413

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