Detection of structural variants and indels within exome data

We report an algorithm to detect structural variation and indels from 1 base pair to 1 megabase pair within exome sequence datasets. 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 good...

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Bibliographic Details
Main Authors: Karakoc, Emre, Alkan, Can, O’Roak, Brian J., Dennis, Megan, Vives, Laura, Mark, Kenneth, Rieder, Mark J., Nickerson, Debbie A., Eichler, Evan E.
Format: Online
Language:English
Published: 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269549/