Detection of ultra-rare mutations by next-generation sequencing

By Michael W. Schmitt, Scott R. Kennedy, J. Salk, E. Fox, Joseph B Hiatt, Lawrence Loeb. Proceedings of the National Academy of Sciences of the United States of America, 2012

980 citations recorded by the source corpus.

Subfields: Cancer Research, Genetics

View Paper: https://www.semanticscholar.org/paper/30aab0a8753426d7da0578871fd45314a2644888

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

1. Dimitra Chalkia
2. Lawrence Loeb
3. Douglas C. Wallace
4. J. Salk
5. Michael W. Schmitt

In Genetics

1. Douglas C. Wallace

Citations in the corpus

• UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy (2017, neutral): “…PCR duplicates by alignment coordinates alone is not possible and/or an accurate quantification is required, including ChIP-exo (He et al. 2015), DNA-seq karyotyping (Karlsson et al. 2015), detection of rare mutations (Schmitt et al. 2012), and antibody repertoire sequencing (Vollmers et al. 2013).”
• Integrated digital error suppression for improved detection of circulating tumor DNA (2016, neutral): “Previous techniques typically require 2, 3, or more copies per molecule 12-14 .”
• Circulating tumor DNA as a liquid biopsy for cancer. (2015, background): “(74) Circulating Tumor DNA as a Liquid Biopsy for Cancer Reviews”
• Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations (2018, methodology): “…in the spectrum of background errors from any single-stranded tagging method: G>T and C>T mutations stemming from oxidation and deamination, respectively, are far more frequent than the reciprocal mutations C>A and G>A. True mutations should be present in equal proportions of complements 60 .”
• Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults (2016, neutral): “Specifically, we likely underreported the number of C to T (G to A) substitutions present in these rare haematopoietic clones due to the stringency of the binomial variant calling strategy and the background rate of cytosine deamination, which is a predominant artefact of ECS 14,16,31 .”
• Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. (2013, background): “Still this is much higher than reported nDNA mutation rates (Schmitt et al. 2012).”