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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-v • 14:06 min • June 23rd, 2012
June 23rd, 2012 •
1, 1, 2, 1, 1,3
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

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résumé
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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 Variants Pooled Sequencing SPLINTER DNA Sequencing Technology Genetic Variation Array-based Genotyping Common Disease/rare Variant Hypothesis Missing Heritability Personal Profile Of Rare Or Private DNA Variants Complex Phenotypes Affected Individuals Unaffected Cohort Computational Analysis Pooled Sequencing Approach Software Package
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