At the University of Washington
- Ovarian Cancer Screening
Ultra-deep sequencing detects ovarian cancer cells in peritoneal fluid and reveals somatic TP53 mutations in noncancerous tissues.
(2016) PNAS. Krimmel et. al. PMID: 27152024
- DNA repair defects in Cockayne Syndrome
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
(2016) PNAS. Reid-Bayliss et. al. PMID: 27543334
- Drosophila mtDNA mutations in gametogenesis
A mitochondrial DNA hypomorph of cytochrome oxidase specifically impairs male fertility in Drosophila melanogaster.
(2016) Elife. Patel et. al. PMID: 27481326
- Mitochondrial mutations in stem cells
Decreased Mitochondrial Mutagenesis during Transformation of Human Breast Stem Cells into Tumorigenic Cells.
(2016) Cancer Research. Ahn et. al. PMID: 27197159
- mtDNA mutations in Alzheimer’s disease
Mitochondrial DNA mutations increase in early stage Alzheimer disease and are inconsistent with oxidative damage.
(2016) Ann. Neuro. Hoekstra et. al. PMID: 27315116
- Efficient targeted capture with Duplex Sequencing™
Sequencing small genomic targets with high efficiency and extreme accuracy.
(2015) Nature Methods. Schmitt et. al. PMID: 25849638
- Parkinson’s Disease mouse model
Endogenous Parkin Preserves Dopaminergic Substantia Nigral Neurons following Mitochondrial DNA Mutagenic Stress.
(2015). Neuron. Pickrell et al. PMID: 26182419
- Mitochondrial mutations in human stem cells
Detection of Ultra-Rare Mitochondrial Mutations in Breast Stem Cells by Duplex Sequencing™.
(2015) PLOS One. Ahn et. al. PMID: 26305705
- Published Duplex Sequencing™ protocol
Detecting ultralow-frequency mutations by Duplex Sequencing™.
(2014) Nature Protocols. Kennedy et. al. PMID: 25299156
- Mitochondrial mutations in aging
Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage.
(2013) PLOS Genetics. Kennedy et. al. PMID: 24086148
- Original Duplex Sequencing™ description
Detection of ultra-rare mutations by next-generation sequencing.
(2012) PNAS. Schmitt et. al. PMID: 22853953
At the Massachusetts Institute of Technology
- Mutational spectra of aflatoxin B1 in vivo establish biomarkers of exposure for human hepatocellular carcinoma
(2017) PNAS. Chawanthayatham et. al. PMID: 28351974