Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly

We present an open-source algorithm, Scalpel, which combines mapping and assembly for sensitive and specific discovery of indels in exome-capture data. A detailed repeat analysis coupled with a self-tuning k-mer strategy allows Scalpel to outperform other state-of-the-art approaches for indel discov...

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Bibliographic Details
Main Authors: Narzisi, Giuseppe, O'Rawe, Jason A., Iossifov, Ivan, Fang, Han, Lee, Yoon-ha, Wang, Zihua, Wu, Yiyang, Lyon, Gholson J., Wigler, Michael, Schatz, Michael C.
Format: Artigo
Language:Inglês
Published: 2014
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4180789/
https://ncbi.nlm.nih.gov/pubmed/25128977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nmeth.3069
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