title: Detection of structural variants and indels within exome data.
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.
authors.affiliation: Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
authors.forename: Emre
authors.initials: E
authors.lastname: Karakoc
authors.forename: Can
authors.initials: C
authors.lastname: Alkan
authors.forename: Brian J
authors.initials: BJ
authors.lastname: O'Roak
authors.forename: Megan Y
authors.initials: MY
authors.lastname: Dennis
authors.forename: Laura
authors.initials: L
authors.lastname: Vives
authors.forename: Kenneth
authors.initials: K
authors.lastname: Mark
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Rieder
authors.forename: Debbie A
authors.initials: DA
authors.lastname: Nickerson
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
mesh_terms: D000465:Algorithms; D059472:Exome; D011544:Pseudogenes