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 …
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 …
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 …
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 …
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 …
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
Identification and quantification of low-frequency mutations remain challenging despite
improvements in the baseline error rate of next-generation sequencing technologies. Here …
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 …
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 …
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
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 …
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
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 …
present at very low frequencies (< 10− 5) poses an increasing demand on lowering the …