Title |
Streamlined analysis of duplex sequencing data with Du Novo
|
---|---|
Published in |
Genome Biology, August 2016
|
DOI | 10.1186/s13059-016-1039-4 |
Pubmed ID | |
Authors |
Nicholas Stoler, Barbara Arbeithuber, Wilfried Guiblet, Kateryna D. Makova, Anton Nekrutenko |
Abstract |
Duplex sequencing was originally developed to detect rare nucleotide polymorphisms normally obscured by the noise of high-throughput sequencing. Here we describe a new, streamlined, reference-free approach for the analysis of duplex sequencing data. We show the approach performs well on simulated data and precisely reproduces previously published results and apply it to a newly produced dataset, enabling us to type low-frequency variants in human mitochondrial DNA. Finally, we provide all necessary tools as stand-alone components as well as integrate them into the Galaxy platform. All analyses performed in this manuscript can be repeated exactly as described at http://usegalaxy.org/duplex . |
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