Thursday, December 22, 2011

Fwd: Detection of structural variants and indels within exome data

Fwd: please follow footer link
Detection of structural variants and indels within exome data:

Detection of structural variants and indels within exome data

Nature Methods.
doi:10.1038/nmeth.1810

Authors: Emre Karakoc, Can Alkan, Brian J O'Roak, Megan Y Dennis, Laura Vives, Kenneth Mark, Mark J Rieder, Debbie A Nickerson & Evan E Eichler

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.



(Original Post: Nature Methods aop.)