Article
Indel variant analysis of short-read sequencing data with Scalpel.
Nature protocols - 1 Dec 2016
Fang Han, Bergmann Ewa A, Arora Kanika, Vacic Vladimir, Zody Michael C, Iossifov Ivan, O'Rawe Jason A, Wu Yiyang, Jimenez Barron Laura T, Rosenbaum Julie, Ronemus Michael, Lee Yoon-Ha, Wang Zihua, Dikoglu Esra, Jobanputra Vaidehi, Lyon Gholson J, Wigler Michael, Schatz Michael C, Narzisi Giuseppe
Abstract excerpt
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-source software for reliable indel detection based on the microassembly technique. It has been successfully used to...
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