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罕见的基因变异检测从集资使用斯普林特测序

Journal JoVE
Biologie

This content is Free Access.

Journal JoVE Biologie

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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罕见的基因变异检测从集资使用斯普林特测序

14,860 Views

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14:06 min

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June 23, 2012

DOI:

DOI:

•

14:06 min

June 23, 2012

•

3 Views

Francesco Vallania¹, Enrique Ramos¹, Sharon Cresci², Robi D. Mitra¹, Todd E. Druley^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

Summary

汇集DNA测序检测与大同伙的复杂表型相关的罕见的变异是一个快速和具有成本效益的战略。在这里，我们描述的汇集，32个癌症相关的基因，利用分裂软件包下一代测序的计算分析。这种方法可扩展性，适用于任何利益型。

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