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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

14,854 Views

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14:06 min

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June 23, 2012

DOI:

10.3791/3943-v

DOI:
10.3791/3943-v

•

14:06 min
June 23, 2012

•

3 Views
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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

Summary

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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 VariantsPooled SequencingSPLINTERDNA Sequencing TechnologyGenetic VariationArray-based GenotypingCommon Disease/rare Variant HypothesisMissing HeritabilityPersonal Profile Of Rare Or Private DNA VariantsComplex PhenotypesAffected IndividualsUnaffected CohortComputational AnalysisPooled Sequencing ApproachSoftware Package

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Vallania, F., Ramos, E., Cresci, S., Mitra, R. D., Druley, T. E. Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER. J. Vis. Exp. (64), e3943, doi:10.3791/3943 (2012).

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