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Article

Detection of ultra-rare mutations by next-generation sequencing.

Proceedings of the National Academy of Sciences of the United States of America - 4 Sept 2012

Schmitt Michael W, Kennedy Scott R, Salk Jesse J, Fox Edward J, Hiatt Joseph B, Loeb Lawrence A

Abstract excerpt

Next-generation DNA sequencing promises to revolutionize clinical medicine and basic research. However, while this technology has the capacity to generate hundreds of billions of nucleotides of DNA sequence in a single experiment, the error rate of ~1% results in hundreds of millions of sequencing mistakes. These scattered errors can be tolerated in some applications but become extremely problematic when "deep...

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PMID: 22853953
DOI: 10.1073/pnas.1208715109
PMCID: PMC3437896

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