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Detectie van zogenaamde Rare Genomic Varianten uit gepoold Sequencing gebruiken SPLINTER
JoVE Journal
Biology
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JoVE Journal Biology
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detectie van zogenaamde Rare Genomic Varianten uit gepoold Sequencing gebruiken SPLINTER

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14,862 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
, , , ,
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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Gepoolde DNA-sequencing is een snelle en kosteneffectieve strategie voor zeldzame varianten geassocieerd met complexe fenotypes in grote cohorten op te sporen. Hier beschrijven we de computationele analyse van gecombineerde, next-generation sequencing van 32 kanker-gerelateerde genen met behulp van de SPLINTER softwarepakket. Deze methode is schaalbaar, en van toepassing op alle fenotype van belang.

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Cite this Article

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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