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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Vydáno v:Nat Protoc
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup: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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