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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

DOI :

10.3791/3943-v

14:06 min

June 23rd, 2012

June 23rd, 2012

14,751 Views

1Center for Genome Sciences and Systems Biology, Department of Genetics, Washington University School of Medicine, 2Department of Internal Medicine, Washington University School of Medicine, 3Department of Pediatrics, Washington University School of Medicine

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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Rare Genomic Variants

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