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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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Autors principals: Karakoc, Emre, Alkan, Can, O’Roak, Brian J., Dennis, Megan, Vives, Laura, Mark, Kenneth, Rieder, Mark J., Nickerson, Debbie A., Eichler, Evan E.
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3269549/
https://ncbi.nlm.nih.gov/pubmed/22179552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nmeth.1810
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