Concepedia

Detecting ultralow-frequency mutations by Duplex Sequencing

Scott R. Kennedy, Michael W. Schmitt, Edward Fox, Brendan F. Kohrn, Jesse J. Salk, Eun Hyun Ahn, Marc J. Prindle, Kawai J Kuong, Jiang-Cheng Shen, Rosa‐Ana Risques,

Nature Protocols · 2014 · 539 citations · 39 references

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39

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

Marco Gerlinger, Andrew J. Rowan, Stuart Horswell et al. · New England Journal of Medicine · 2012 · 7.8K citations · Full text

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