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Nat Methods. 2011 Dec 18;9(2):176-8. doi: 10.1038/nmeth.1810.

Detection of structural variants and indels within exome data.

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1
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.

Abstract

We report an algorithm to detect structural variation and indels from 1 base pair (bp) to 1 Mbp within exome sequence data sets. Splitread uses one end-anchored placements to cluster the mappings of subsequences of unanchored ends to identify the size, content and location of variants with high specificity and sensitivity. The algorithm discovers indels, structural variants, de novo events and copy number-polymorphic processed pseudogenes missed by other methods.

PMID:
22179552
PMCID:
PMC3269549
DOI:
10.1038/nmeth.1810
[Indexed for MEDLINE]
Free PMC Article
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