Indel variant analysis of short-read sequencing data with Scalpel

As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains challenging. Scalpel (http://scalpel.sourceforge.net) is an open-...

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Bibliographic Details
Published in:Nat Protoc
Main Authors: Fang, Han, Bergmann, Ewa A, Arora, Kanika, Vacic, Vladimir, Zody, Michael C, Iossifov, Ivan, O’Rawe, Jason A, Wu, Yiyang, Barron, Laura T Jimenez, Rosenbaum, Julie, Ronemus, Michael, Lee, Yoon-ha, Wang, Zihua, Dikoglu, Esra, Jobanputra, Vaidehi, Lyon, Gholson J, Wigler, Michael, Schatz, Michael C, Narzisi, Giuseppe
Format: Artigo
Language:Inglês
Published: 2016
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5507611/
https://ncbi.nlm.nih.gov/pubmed/27854363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nprot.2016.150
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