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JoVE Journal
Biology

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
 

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Article doi: 10.3791/3943
June 23rd, 2012

Summary June 23rd, 2012

Pooled DNA sequencing is a fast and cost-effective strategy to detect rare variants associated with complex phenotypes in large cohorts. Here we describe the computational analysis of pooled, next-generation sequencing of 32 cancer-related genes using the SPLINTER software package. This method is scalable, and applicable to any phenotype of interest.

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