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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

DOI:
10.3791/3943-v

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14:06 min

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June 23, 2012

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, , , ,
1Center for Genome Sciences and Systems Biology, Department of Genetics,Washington Üniversitesi Tıp Fakültesi, 2İç Hastalıkları Anabilim Dalı,Washington Üniversitesi Tıp Fakültesi, 3Pediatri Anabilim Dalı,Washington Üniversitesi Tıp Fakültesi

'Bölümler'

  • 00:05'Başlık'
  • 01:28Pooled PCR Library Preparation and Sequencing
  • 04:46Sequencing Reads Alignment and Analysis
  • 07:35Rare Variant Detection using SPLINTER
  • 11:11SPLINTER Results: Detection of Rare Genomic Variants from Pooled Sequencing
  • 13:24Conclusion

Özet

'Otomatik Çeviri'

'Otomatik Çeviri'

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.

'Etiketler'

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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