Detection of ultra-rare mutations by next-generation sequencing

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 109; no. 36; pp. 14508 - 14513
• Main Authors: Schmitt, Michael W, Kennedy, Scott R, Salk, Jesse J, Fox, Edward J, Hiatt, Joseph B, Loeb, Lawrence A
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 04.09.2012; National Acad Sciences
• Series: From the Cover
• Subjects: Biological Sciences; Cells; Deoxyribonucleic acid; DNA; DNA damage; DNA Damage - genetics; Error rates; Errors; Genetic mutation; Genomes; high-throughput nucleotide sequencing; High-Throughput Nucleotide Sequencing - methods; Humans; medicine; Metagenome - genetics; Mitochondrial DNA; Molecules; Mutation; Mutation - genetics; neoplasms; Neoplasms - genetics; nucleotide sequences; Nucleotides; Oligonucleotides - genetics; Polymerase chain reaction; Research Design - statistics & numerical data; Sequencing

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 m...