Detection and quantification of rare mutations with massively parallel sequencing

I Kinde, J Wu, N Papadopoulos… - Proceedings of the …, 2011 - National Acad Sciences
The identification of mutations that are present in a small fraction of DNA templates is
essential for progress in several areas of biomedical research. Although massively parallel …

Safe sequencing system

B Vogelstein, KW Kinzler, N Papadopoulos… - US Patent …, 2016 - Google Patents
The identification of mutations that are present in a small fraction of DNA templates is
essential for progress in several areas of biomedical research. Though massively parallel …

Safe sequencing system

B Vogelstein, KW Kinzler, N Papadopoulos… - US Patent …, 2016 - Google Patents
Error rates in massively parallel sequencing instruments are generally too high to allow
confident identification of rare variants. An approach that can substantially increase the …

Safe sequencing system

B Vogelstein, KW Kinzler, N Papadopoulos… - US Patent …, 2021 - Google Patents
Though massively parallel sequencing instruments are in principle well-suited to the task of
identification of mutations present in a small fraction of DNA templates, the error rates in …

Detection of ultra-rare mutations by next-generation sequencing

MW Schmitt, SR Kennedy, JJ Salk… - Proceedings of the …, 2012 - National Acad Sciences
Next-generation DNA sequencing promises to revolutionize clinical medicine and basic
research. However, while this technology has the capacity to generate hundreds of billions …

Detection of low-frequency DNA variants by targeted sequencing of the Watson and Crick strands

JD Cohen, C Douville, JC Dudley, BJ Mog… - Nature …, 2021 - nature.com
Identification and quantification of low-frequency mutations remain challenging despite
improvements in the baseline error rate of next-generation sequencing technologies. Here …

Ultrasensitive detection of rare mutations using next-generation targeted resequencing

P Flaherty, G Natsoulis, O Muralidharan… - Nucleic acids …, 2012 - academic.oup.com
With next-generation DNA sequencing technologies, one can interrogate a specific genomic
region of interest at very high depth of coverage and identify less prevalent, rare mutations in …

Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants

M Gundry, J Vijg - … Research/Fundamental and Molecular Mechanisms of …, 2012 - Elsevier
DNA mutations are the source of genetic variation within populations. The majority of
mutations with observable effects are deleterious. In humans mutations in the germ line can …

Simple multiplexed PCR-based barcoding of DNA for ultrasensitive mutation detection by next-generation sequencing

A Ståhlberg, PM Krzyzanowski, M Egyud, S Filges… - Nature protocols, 2017 - nature.com
Detection of extremely rare variant alleles within a complex mixture of DNA molecules is
becoming increasingly relevant in many areas of clinical and basic research, such as the …

Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications

B Arbeithuber, KD Makova, I Tiemann-Boege - Dna Research, 2016 - academic.oup.com
The need in cancer research or evolutionary biology to detect rare mutations or variants
present at very low frequencies (< 10− 5) poses an increasing demand on lowering the …